TWIST1 gene related symptoms and diseases
All the information presented here about the TWIST1 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to TWIST1 gene
Symptoms // Phenotype | % Cases |
---|---|
Intellectual disability | Common - Between 50% and 80% cases |
Midface retrusion | Common - Between 50% and 80% cases |
Hearing impairment | Common - Between 50% and 80% cases |
Hypertelorism | Common - Between 50% and 80% cases |
Brachycephaly | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with TWIST1 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Craniosynostosis
- Plagiocephaly
- Increased intracranial pressure
- Proptosis
- Strabismus
- Global developmental delay
Rarely - Less than 30% cases
- Frontal bossing
- Telecanthus
And 151 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to TWIST1 gene
Here you will find a list of rare diseases related to the TWIST1. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
SAETHRE-CHOTZEN SYNDROME
Alternate names
SAETHRE-CHOTZEN SYNDROME Is also known as acs3, acrocephalosyndactyly type 3, scs, acrocephaly, skull asymmetry, and mild syndactyly, acs iii, acrocephalosyndactyly, type iii, chotzen syndrome
Description
Saethre-Chotzen syndrome (SCS) is an inherited craniosynostosis syndrome characterized by unilateral or bilateral coronal synostosis, facial asymmetry, ptosis, strabismus and small ears with prominent crus, among other less common manifestations.
Most common symptoms of SAETHRE-CHOTZEN SYNDROME
- Intellectual disability
- Seizures
- Global developmental delay
- Short stature
- Hearing impairment
More info about SAETHRE-CHOTZEN SYNDROME
CRANIOSYNOSTOSIS 1; CRS1
Alternate names
CRANIOSYNOSTOSIS 1; CRS1 Is also known as crs, craniostenosis
Description
Craniosynostosis is a primary abnormality of skull growth involving premature fusion of the cranial sutures such that the growth velocity of the skull often cannot match that of the developing brain. This produces skull deformity and, in some cases, raises intracranial pressure, which must be treated promptly to avoid permanent neurodevelopmental disability (summary by Fitzpatrick, 2013). Mutation in the TWIST1 has been found to cause coronal and sagittal forms of craniosynostosis.
Most common symptoms of CRANIOSYNOSTOSIS 1; CRS1
- Intellectual disability
- Seizures
- Micrognathia
- Blindness
- Clinodactyly
More info about CRANIOSYNOSTOSIS 1; CRS1
ISOLATED PLAGIOCEPHALY
Alternate names
ISOLATED PLAGIOCEPHALY Is also known as non-syndromic unicoronal synostosis, synostotic plagiocephaly
Description
Isolated synostotic plagiocephaly (SP) is a form of nonsyndromic craniosynostosis characterized by premature fusion of one coronal suture leading to skull deformity and facial asymmetry.
Most common symptoms of ISOLATED PLAGIOCEPHALY
- Intellectual disability
- Global developmental delay
- Hearing impairment
- Strabismus
- Macrocephaly
More info about ISOLATED PLAGIOCEPHALY
SOURCES: ORPHANET
ROBINOW-SORAUF SYNDROME
Alternate names
ROBINOW-SORAUF SYNDROME Is also known as acrocephalosyndactyly, robinow-sorauf type, craniosynostosis-bifid hallux syndrome
Most common symptoms of ROBINOW-SORAUF SYNDROME
- Hypertelorism
- Strabismus
- Malar flattening
- Flat face
- Plagiocephaly
More info about ROBINOW-SORAUF SYNDROME
SWEENEY-COX SYNDROME; SWCOS
Description
Sweeney-Cox syndrome is characterized by striking facial dysostosis, including hypertelorism, deficiencies of the eyelids and facial bones, cleft palate/velopharyngeal insufficiency, and low-set cupped ears (Kim et al., 2017).
Most common symptoms of SWEENEY-COX SYNDROME; SWCOS
- Global developmental delay
- Hearing impairment
- Hypertelorism
- Micrognathia
- Abnormal facial shape
More info about SWEENEY-COX SYNDROME; SWCOS
SOURCES: OMIM
ISOLATED SCAPHOCEPHALY
Alternate names
ISOLATED SCAPHOCEPHALY Is also known as isolated dolichocephaly, non-syndromic sagittal synostosis
Description
Isolated scaphocephaly is a form of nonsyndromic craniosynostosis characterized by premature fusion of the sagittal suture.
Most common symptoms of ISOLATED SCAPHOCEPHALY
- Frontal bossing
- Dolichocephaly
- Increased intracranial pressure
- Prominent occiput
More info about ISOLATED SCAPHOCEPHALY
SOURCES: ORPHANET
ISOLATED BRACHYCEPHALY
Alternate names
ISOLATED BRACHYCEPHALY Is also known as non-syndromic bicoronal synostosis
Description
Isolated brachycephaly is a relatively frequent nonsyndromic craniosynostosis consisting of premature fusion of both coronal sutures leading to skull deformity with a broad flat forehead and palpable coronal ridges.
Most common symptoms of ISOLATED BRACHYCEPHALY
- Intellectual disability
- Hearing impairment
- Hypertelorism
- Brachydactyly
- Midface retrusion
More info about ISOLATED BRACHYCEPHALY
SOURCES: ORPHANET
Search interest in TWIST1
Potential gene panels for TWIST1 gene
NGS Craniosynostosis Panel Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center NGS Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 FGFR1 FGFR2 MSX2 POR RECQL4
More info about this panelSaethre-Chotzen syndrome Panel
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome - TWIST1 Sequencing Panel
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the TWIST1 gene.
More info about this panelTest for Saethre-Chotzen Syndrome Panel
By Genome Diagnostics Laboratory University Medical Center Utrecht
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome Panel
By Johns Hopkins DNA Diagnostic Laboratory Johns Hopkins Hospital Saethre-Chotzen Syndrome that also includes the following genes: TWIST1 FGFR2 FGFR3
More info about this panelSaethre-Chotzen Syndrome - Twist Gene Analysis Panel
By Center for Genetics at Saint Francis Saint Francis Hospital
This panel specifically test the TWIST1 gene.
More info about this panelCraniodysmorphology Panel (FGFR1,2,3,TWIST) Panel
By Center for Genetics at Saint Francis Saint Francis Hospital Craniodysmorphology Panel (FGFR1,2,3,TWIST) that also includes the following genes: TWIST1 FGFR2
More info about this panelCraniosynostosis Panel
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43
More info about this panelCraniofacial Sequencing Panel Panel
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panelCraniofacial Deletion/Duplication Panel Panel
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panelCraniosynostosis Panel
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panelTWIST. MLPA testing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TWIST1 gene.
More info about this panelTWIST. Complete sequencing Panel
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome Panel
By Unity of Clinical Genetics and Functional Genomics University of Zaragoza. Faculty of Medicine.
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome - TWIST Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Saethre-Chotzen Syndrome - TWIST Sequence Analysis that also includes the following genes: TWIST1 FGFR3
More info about this panelCraniosynostosis Next Generation Sequencing Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Next Generation Sequencing Panel that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis Sequence Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Sequence Analysis that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniofacial Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniosynostosis Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniosynostosis Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniosynostosis Seq + Del/Dup Panel that also includes the following genes: RUNX2 SKI TCF12 TWIST1 ZIC1 IFT122 RAB23 CD96 SPECC1L WDR35
More info about this panelCraniofacial Seq + Del/Dup Panel Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelCraniofacial Seq Analysis Panel
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panelSaethre-Chotzen syndrome (sequence analysis of TWIST1 gene) Panel
By CGC Genetics
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis (NGS panel for 4 genes) Panel
By CGC Genetics Craniosynostosis (NGS panel for 4 genes) that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelSaethre-Chotzen syndrome (deletion/duplication analysis of TWIST1 gene) Panel
By CGC Genetics
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis (NGS panel for 30 genes) Panel
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panelCraniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) Panel
By CGC Genetics Craniofacial anomalies (deletions/duplications analysis of FGFR1, FGFR2, FGFR3, TWIST1, MSX2, ALX1, ALX3, ALX4, EFNB1 and RUNX2 genes) that also includes the following genes: RUNX2 TWIST1 ALX1 EFNB1 FGFR1 FGFR2 FGFR3 ALX3 ALX4 MSX2
More info about this panelSaethre-Chotzen Syndrome TWIST1 Panel
By Institute of Medical Genetics and Genomics Sir Ganga Ram Hospital
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis and Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Craniosynostosis and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelFacial Dysostosis Related Disorders Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Facial Dysostosis Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: SF3B4 SMC1A TCF12 TCOF1 TWIST1 HDAC8 SRCAP POLR1C POLR1D CREBBP
More info about this panelSaethre-Chotzen Syndrome via TWIST1 Gene Sequencing with CNV Detection Panel
By PreventionGenetics PreventionGenetics
This panel specifically test the TWIST1 gene.
More info about this panelSkeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panelCraniosynostosis core NGS panel Panel
By Connective Tissue Gene Tests Craniosynostosis core NGS panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis core Comprehensive panel Panel
By Connective Tissue Gene Tests Craniosynostosis core Comprehensive panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis core Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Craniosynostosis core Deletion / Duplication panel that also includes the following genes: TCF12 TWIST1 FGFR1 FGFR2 FGFR3
More info about this panelCraniosynostosis Deletion / Duplication panel Panel
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelCraniosynostosis Comprehensive panel Panel
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelCraniosynostosis NGS panel Panel
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panelCraniosynostosis, type 1 Sequencing test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen syndrome Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen syndrome sequencing test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen syndrome Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis, type 1 Deletion / Duplication test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis, type 1 Comprehensive test Panel
By Connective Tissue Gene Tests
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-chotzen syndrome Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the TWIST1 gene.
More info about this panelTWIST1-related craniosynostosis Panel
By Institute of Human Genetics Uniklinik RWTH Aachen
This panel specifically test the TWIST1 gene.
More info about this panelMental Retardation and Dysmorphology - panels Panel
By MGZ Medical Genetics Center Mental Retardation and Dysmorphology - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSyndromal Diseases - panels Panel
By MGZ Medical Genetics Center Syndromal Diseases - panels that also includes the following genes: RIT1 ROR2 RPL10 RPS6KA3 RRAS SALL1 SF3B4 SGSH ST3GAL3 SLC16A2
More info about this panelSaethre-Chotzen syndrome Panel
By Centogene AG - the Rare Disease Company
This panel specifically test the TWIST1 gene.
More info about this panelAllNeuro panel Panel
By Centogene AG - the Rare Disease Company AllNeuro panel that also includes the following genes: BCS1L ROR2 RPL10 BDNF RPS6KA3 RTN2 RYR1 SACS BIN1 SBF1
More info about this panelSingle gene testing TWIST1 Panel
By CeGaT GmbH
This panel specifically test the TWIST1 gene.
More info about this panelCraniosynostosis syndromes Panel Panel
By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1
More info about this panelCraniosynostosis Panel
By Asper Biogene Asper Biogene LLC Craniosynostosis that also includes the following genes: TWIST1 FGFR1 FGFR2 FGFR3 IL11RA MSX2 RECQL4
More info about this panelSaethre-Chotzen Syndrome Panel
By Clinical Genomics Maastricht University Medical Centre
This panel specifically test the TWIST1 gene.
More info about this panelTWIST1 Panel
By Division Human Genetics Medical University Innsbruck
This panel specifically test the TWIST1 gene.
More info about this panelqChip Panel
By Quantitative Genomic Medicine Laboratories, SL qChip that also includes the following genes: RS1 RUNX2 SALL1 SCN1A BMPR1A SH2D1A SEM1 SHH SHOX SIM1
More info about this panelqGenEx Craniofacial Anomalies Panel
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panelInvitae Craniosynostosis Panel Panel
By Invitae Invitae Craniosynostosis Panel that also includes the following genes: TWIST1 RAB23 MEGF8 ERF FGFR1 FGFR2 FGFR3 GLI3 MSX2
More info about this panelSaethre-Chotzen syndrome: TWIST1 gene sequence analysis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases
This panel specifically test the TWIST1 gene.
More info about this panelCraniosysostosis Panel
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43
More info about this panelTWIST - Gene Sequencing & Del/Dup analysis Panel
By Genome Diagnostics VU University Medical Center
This panel specifically test the TWIST1 gene.
More info about this panelIntellectual Disability NGS Panel Panel
By Fulgent Genetics Fulgent Genetics Intellectual Disability NGS Panel that also includes the following genes: BCS1L RPS6KA3 SACS BIN1 SCN1A SCN8A SDCCAG8 SGCA SGSH ST3GAL3
More info about this panelTWIST1 Panel
By Fulgent Genetics Fulgent Genetics
This panel specifically test the TWIST1 gene.
More info about this panelFacial Dysostosis and Related Disorders Panel Panel
By Blueprint Genetics Facial Dysostosis and Related Disorders Panel that also includes the following genes: SF3B4 SMC1A TCOF1 TWIST1 UBE2A HDAC8 SRCAP EVC2 POLR1C POLR1D
More info about this panelCraniosynostosis Panel Panel
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panelComprehensive Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panelComprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panelCombined Skeletal Dysplasia/Osteogenesis Imperfecta Panel Panel
By Insight Medical Genetics Combined Skeletal Dysplasia/Osteogenesis Imperfecta Panel that also includes the following genes: ROR2 BMP1 SLC26A2 SOX9 TWIST1 WNT1 SERPINH1 IFITM5 SP7 FKBP10
More info about this panelSaethre-Chotzen syndrome Panel
By Bioarray
This panel specifically test the TWIST1 gene.
More info about this panelRapid microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics Rapid microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelHigh-Resolution Rapid Microarray (CGH and SNP) Panel
By Allele Diagnostics Allele Diagnostics High-Resolution Rapid Microarray (CGH and SNP) that also includes the following genes: RPS19 RUNX2 SALL1 SCN1A SCN2A SDHB SDHD BMPR1A SGCE SH2D1A
More info about this panelSAETHRE-CHOTZEN SYNDROME Panel
By Laboratorio de Genetica Clinica SL
This panel specifically test the TWIST1 gene.
More info about this panelCRANIOSYNOSTOSIS NGS PANEL Panel
By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1
More info about this panelSaethre-Chotzen Syndrome, Sequencing TWIST1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome , Deletions-Duplications (MLPA) TWIST1 Gene Panel
By Reference Laboratory Genetics
This panel specifically test the TWIST1 gene.
More info about this panelSyndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes Panel
By Reference Laboratory Genetics Syndromic Craniosynostosis , Panel Massive Sequencing (NGS) 9 Genes that also includes the following genes: TWIST1 RAB23 EFNB1 FGFR1 FGFR2 FGFR3 GLI3 MSX2 POR
More info about this panelTempus xO assay Panel
By Tempus Labs, Inc. Tempus xO assay that also includes the following genes: BCL6 RHEB RIPK1 RIPK2 RIPK3 RIT1 BCL7A BCL9 BCR ROBO2
More info about this panelSaethre-Chotzen Syndrome: gene deletion/duplication Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TWIST1 gene.
More info about this panelSaethre-Chotzen Syndrome: gene sequencing Panel
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the TWIST1 gene.
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