KRT14 gene related symptoms and diseases

All the information presented here about the KRT14 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,HGNC,NCBIGENE,OMIM, Mendelian Rare Disease Search Engine.

Top 5 symptoms and clinical features associated to KRT14 gene

Symptoms // Phenotype % Cases
Palmoplantar keratoderma Very Common - Between 80% and 100% cases
Abnormal blistering of the skin Very Common - Between 80% and 100% cases
Milia Very Common - Between 80% and 100% cases
Nail dystrophy Common - Between 50% and 80% cases
Hyperkeratosis Common - Between 50% and 80% cases

Other less frequent symptoms and clinical features

Patients with KRT14 gene alterations may also develop some of the following symptoms and phenotypes:
  • Not very common - Between 30% and 50% cases

  • Atrophic scars
  • Hyperhidrosis
  • Skin vesicle
  • Palmoplantar hyperkeratosis
  • Rarely - Less than 30% cases

  • Carious teeth
  • Hyperpigmentation of the skin
  • Mottled pigmentation
  • Ectodermal dysplasia

And 60 more phenotypes, you can get all of them using our tools for rare diseases.

Mendelian

Accelerate your rare disease diagnosis with us

Learn more

Rare diseases associated to KRT14 gene

Here you will find a list of rare diseases related to the KRT14. You can also use our tool to get a more accurate diagnosis based on your current symptoms.


EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14 Is also known as krt14-related autosomal recessive ebs, krt14-related autosomal recessive epidermolysis bullosa simplex, ebs-ar krt14, ebs, autosomal recessive k14

Description

Epidermolysis bullosa simplex, autosomal recessive K14 (EBS-AR KRT14) is a basal subtype of epidermolysis bullosa simplex (EBS) characterized by generalized or, less frequently, localized acral blistering.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

  • Growth delay
  • Anemia
  • Carious teeth
  • Ichthyosis
  • Palmoplantar keratoderma


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE K14

SOURCES: ORPHANET

LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX


Alternate names

LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX Is also known as ebs-loc, epidermolysis bullosa simplex, weber-cockayne type, epidermolysis bullosa simplex of palms and soles

Description

Localized epidermolysis bullosa simplex, formerly known as EBS, Weber-Cockayne, is a basal subtype of epidermolysis bullosa simplex (EBS, see this term). The disease is characterized by blisters occurring mainly on the palms and soles, exacerbated by warm weather.

Most common symptoms of LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX

  • Hyperhidrosis
  • Nail dystrophy
  • Bruising susceptibility
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


More info about LOCALIZED EPIDERMOLYSIS BULLOSA SIMPLEX

SOURCES: ORPHANET

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE Is also known as generalized ebs, non-dowling-meara type, epidermolysis bullosa simplex, kÖbner type, generalized epidermolysis bullosa simplex, non-dowling-meara type, ebs, generalized intermediate, epidermolysis bullosa simplex, koebner type

Description

Non-Dowling-Meara generalized epidermolysis bullosa simplex, formerly known as epidermolysis bullosa simplex, Köbner type (EBS-K) is a generalized basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by non-herpetiform blisters and erosions arising in particular at sites of friction.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

  • Failure to thrive
  • Muscle weakness
  • Ptosis
  • Respiratory insufficiency
  • Hyperhidrosis


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED INTERMEDIATE

SOURCES: ORPHANET

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION Is also known as ebs-mp

Description

Epidermolysis bullosa simplex with mottled pigmentation (EBS-MP) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by generalized blistering with mottled or reticulate brown pigmentation.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION

  • Nail dystrophy
  • Bruising susceptibility
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin
  • Hypopigmented skin patches


More info about EPIDERMOLYSIS BULLOSA SIMPLEX WITH MOTTLED PIGMENTATION

SOURCES: ORPHANET

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE Is also known as epidermolysis bullosa simplex, herpetiformis, ebs, generalized severe, epidermolysis bullosa simplex, dowling-meara type

Description

Epidermolysis bullosa simplex, Dowling-Meara type (EBS-DM) is a basal subtype of epidermolysis bullosa simplex (EBS, see this term) characterized by the presence of generalized vesicles and small blisters in grouped or arcuate configuration.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

  • Failure to thrive
  • Feeding difficulties
  • Constipation
  • Nail dystrophy
  • Palmoplantar keratoderma


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED SEVERE

SOURCES: ORPHANET

EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1


Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous group of disorders characterized by recurrent blistering and cleavage within basal keratinocytes. Most forms show autosomal dominant inheritance (see, e.g., {131800}, {131760}, and {131900}), but autosomal recessive inheritance has been described (Fine et al., 2008).

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1

  • Neoplasm
  • Hyperkeratosis
  • Abnormality of skin pigmentation
  • Palmoplantar keratoderma
  • Abnormal blistering of the skin


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, AUTOSOMAL RECESSIVE 1; EBSB1

SOURCES: ORPHANET OMIM

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED Is also known as ebs, generalized, epidermolysis bullosa simplex, koebner type

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The 3 main types include the generalized Koebner form, the more severe generalized Dowling-Meara form (OMIM ), and the localized, mild Weber-Cockayne form (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.Davison (1965) referred to generalized distribution of bullous vesicles as epidermolysis simplex bullosa. The condition in which bullae were limited to the hands and feet was referred to as the Cockayne type of epidermolysis bullosa (OMIM ).On the basis of an extensive study in Norway and review of the literature, Gedde-Dahl (1971) arrived at a classification of epidermolysis bullosa. EB simplex in this classification encompassed disorders characterized by bulla formation within the epidermis, basal cell vacuolization, and dissolution of tonofibrils on electron microscopy. The generalized Koebner form and the localized Weber-Cockayne type were believed to be allelic. Gedde-Dahl (1981) recognized at least 16 varieties of epidermolysis bullosa and suggested that dominant EB simplex can be clinically and genetically divided into at least 4 types: the generalized Koebner type, the localized Weber-Cockayne type, the mild Ogna type with fragile skin (OMIM ), and a form with mottled pigmentation (OMIM ).Fine et al. (1991) provided a revised classification of the subtypes of inherited epidermolysis bullosa based on clinical and laboratory criteria.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

  • Fever
  • Hyperkeratosis
  • Nail dystrophy
  • Nail dysplasia
  • Abnormal blistering of the skin


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, GENERALIZED

SOURCES: OMIM

EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED Is also known as epidermolysis bullosa of hands and feet, epidermolysis bullosa simplex, weber-cockayne type, ebs, acral form

Description

Epidermolysis bullosa simplex is a clinically and genetically heterogeneous skin disorder characterized by blistering of the skin following minor physical trauma as a result of cytolysis within the basal epidermal cells. Most forms show autosomal dominant inheritance. The localized form is characterized by localized blistering primarily on the hands and feet (Pfendner et al., 2005). The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the more severe Dowling-Meara type (OMIM ). All 3 forms can be caused by mutation in the KRT5 or KRT14 genes (summary by Fine et al., 2008).

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

  • Hyperkeratosis
  • Abnormal blistering of the skin
  • Milia
  • Palmoplantar blistering


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, LOCALIZED

SOURCES: OMIM

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM


Alternate names

EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM Is also known as epidermolysis bullosa simplex, generalized severe, epidermolysis bullosa herpetiformis, dowling-meara type

Description

Epidermolysis bullosa simplex (EBS) is a clinically and genetically heterogeneous skin disorder characterized by recurrent blistering of the skin following minor physical trauma as a result of cytolysis within basal epidermal cells. Most forms show autosomal dominant inheritance. The Dowling-Meara type of EBS is the most severe form, with generalized blistering that often occurs in clusters (herpetiform), is often associated with hyperkeratosis of the palms and soles, and shows clumping of keratin filaments in basal epidermal cells. The other 2 main types of EBS include the milder generalized Koebner type (OMIM ) and the milder and localized Weber-Cockayne type (OMIM ) (Fine et al., 2008). All 3 forms can be caused by mutation in the KRT5 or the KRT14 gene. See {601001} for a rare autosomal recessive form caused by mutation in the KRT14 gene.

Most common symptoms of EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

  • Growth delay
  • Anemia
  • Hyperkeratosis
  • Scarring
  • Nail dystrophy


More info about EPIDERMOLYSIS BULLOSA SIMPLEX, DOWLING-MEARA TYPE; EBSDM

SOURCES: OMIM

NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME


Alternate names

NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME Is also known as nfj syndrome, naegeli syndrome

Description

Naegeli-Franceschetti-Jadassohn (NFJ) syndrome is a rare ectodermal dysplasia that affects the skin, sweat glands, nails, and teeth.

Most common symptoms of NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME

  • Hyperhidrosis
  • Hyperkeratosis
  • Carious teeth
  • Palmoplantar keratoderma
  • Ectodermal dysplasia


More info about NAEGELI-FRANCESCHETTI-JADASSOHN SYNDROME

SOURCES: MESH ORPHANET OMIM

DERMATOPATHIA PIGMENTOSA RETICULARIS


Description

Dermatopathia pigmentosa reticularis is a rare heritable disorder consisting of a triad of cutaneous findings including reticulate hyperpigmentation, noncicatricial alopecia, and onychodystrophy. Variable features include adermatoglyphia, hypohidrosis or hyperhidrosis, and palmoplantar hyperkeratosis (Heimer et al., 1992).

Most common symptoms of DERMATOPATHIA PIGMENTOSA RETICULARIS

  • Abnormality of the dentition
  • Alopecia
  • Hyperhidrosis
  • Hyperkeratosis
  • Nail dystrophy


More info about DERMATOPATHIA PIGMENTOSA RETICULARIS

SOURCES: OMIM ORPHANET MESH


Potential gene panels for KRT14 gene

EBSeq Epidermolysis Bullosa Panel Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center EBSeq Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CD151 CDSN COL17A1 COL7A1 KLHL24 DSP

More info about this panel

KRT14 Gene Sequencing Panel

United States.

By Cincinnati Children's Hospital Medical Center Laboratory of Genetics and Genomics Cincinnati Children's Hospital Medical Center

This panel specifically test the KRT14 gene.

More info about this panel

KRT14 Panel

Germany.

By Institute for Human Genetics University Clinic Freiburg

This panel specifically test the KRT14 gene.

More info about this panel

KRT14. Sequencing of the exons 1, 4 and 6 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT14 gene.

More info about this panel

KRT14. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT14 gene.

More info about this panel

KRT14. Sequencing of the exons 1, 4 and 6 Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT14 gene.

More info about this panel

KRT14. Complete sequencing Panel

Spain.

By Instituto de Medicina Genomica Instituto de Medicina Genomica

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis bullosa simplex (sequence analysis of KRT14 gene) Panel

Portugal.

By CGC Genetics

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis bullosa (NGS panel for 18 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (NGS panel for 18 genes) that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Epidermolysis bullosa simplex (NGS panel for 4 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa simplex (NGS panel for 4 genes) that also includes the following genes: DST KRT14 KRT5 PLEC

More info about this panel

Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) that also includes the following genes: KRT14 LAMA3 LAMB3 LAMC2

More info about this panel

Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) Panel

Portugal.

By CGC Genetics Epidermolysis bullosa (deletion/duplication analysis of KRT14, LAMA3, LAMB3 and LAMC2 genes) that also includes the following genes: KRT14 LAMA3 LAMB3 LAMC2

More info about this panel

Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics Epidermolysis Bullosa and Related Disorders Sequencing Panel with CNV Detection that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 DSP ITGA3 ITGA6 ITGB4 JUP

More info about this panel

Epidermolysis Bullosa Simplex (EBS) via KRT14 Gene Sequencing with CNV Detection Panel

United States.

By PreventionGenetics PreventionGenetics

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis bullosa Comprehensive panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Comprehensive panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa NGS panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa NGS panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa Deletion / Duplication panel Panel

United States.

By Connective Tissue Gene Tests Epidermolysis bullosa Deletion / Duplication panel that also includes the following genes: DST TGM5 FERMT1 CHST8 CDSN COL17A1 COL7A1 CSTA KLHL24 DSP

More info about this panel

Epidermolysis bullosa simplex Panel

Germany.

By Centogene AG - the Rare Disease Company

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis bullosa panel Panel

Germany.

By Centogene AG - the Rare Disease Company Epidermolysis bullosa panel that also includes the following genes: DST TGM5 FERMT1 CHST8 COL17A1 COL7A1 CSTA DSG1 DSP EXPH5

More info about this panel

Ichthyoses and related disorders of cornification Panel Panel

Germany.

By CeGaT GmbH Ichthyoses and related disorders of cornification Panel that also includes the following genes: SLC27A4 SNAP29 ST14 STS TAT TGM1 TGM5 VPS33B ATP2C1 NSDHL

More info about this panel

Genetic disorders with abnormal pigmentation Panel Panel

Germany.

By CeGaT GmbH Genetic disorders with abnormal pigmentation Panel that also includes the following genes: BLM SLC40A1 SNAI2 SOX10 STK11 TFR2 POFUT1 HAMP ADAM10 LYST

More info about this panel

Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel

Germany.

By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6

More info about this panel

Genetic Epidermolyses and blistering disorders Panel Panel

Germany.

By CeGaT GmbH Genetic Epidermolyses and blistering disorders Panel that also includes the following genes: DST FERMT1 COL17A1 COL7A1 DSP EXPH5 ITGA3 ITGA6 ITGB4 KRT1

More info about this panel

Epidermolysis bullosa simplex: KRT5 (exons 1,5,7) and KRT14 (exons 1,4-7) genes screening Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Epidermolysis bullosa simplex: KRT5 (exons 1,5,7) and KRT14 (exons 1,4-7) genes screening that also includes the following genes: KRT14 KRT5

More info about this panel

EPIDERMOLYSIS BULLOSA Panel

Spain.

By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases EPIDERMOLYSIS BULLOSA that also includes the following genes: COL17A1 COL7A1 ITGA6 ITGB4 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

More info about this panel

Epidermolysis Bullosa NGS Panel Panel

United States.

By Fulgent Genetics Fulgent Genetics Epidermolysis Bullosa NGS Panel that also includes the following genes: CD151 COL17A1 COL7A1 DSP ITGA3 ITGB4 KRT14 KRT5 LAMA3 LAMB3

More info about this panel

KRT14 Panel

United States.

By Fulgent Genetics Fulgent Genetics

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis Bullosa Panel Panel

Finland.

By Blueprint Genetics Epidermolysis Bullosa Panel that also includes the following genes: DST TGM5 ATP2C1 FERMT1 CDSN GRIP1 DSG4 COL17A1 COL7A1 DSG1

More info about this panel

Palmoplantar Keratoderma Panel Panel

Finland.

By Blueprint Genetics Palmoplantar Keratoderma Panel that also includes the following genes: WNT10A SERPINB7 MBTPS2 TRPV3 SLURP1 KRT6C CTSC AAGAB DSG1 DSP

More info about this panel

Autosomal recessive epidermolysis bullosa simplex Panel

Spain.

By Bioarray

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis bullosa simplex Panel

Spain.

By Bioarray

This panel specifically test the KRT14 gene.

More info about this panel

Autosomal recessive epidermolysis bullosa simplex Panel

Spain.

By Bioarray

This panel specifically test the KRT14 gene.

More info about this panel

EPIDERMOLISIS BULLOSA SIMPLEX / WEBER-COCKAYNE / DOWLING-MEARA / KOEBNER TYPES Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA SIMPLEX / WEBER-COCKAYNE / DOWLING-MEARA / KOEBNER TYPES that also includes the following genes: KRT14 KRT5 PLEC

More info about this panel

EPIDERMOLISIS BULLOSA: NGS PANEL Panel

Spain.

By Laboratorio de Genetica Clinica SL EPIDERMOLISIS BULLOSA: NGS PANEL that also includes the following genes: DST TGM5 FERMT1 COL17A1 COL7A1 KLHL24 DSP EXPH5 ITGA3 ITGA6

More info about this panel

Naegeli-Franceschetti-Jadassohn Syndrome , Sequencing KRT14 Gene Panel

Spain.

By Reference Laboratory Genetics

This panel specifically test the KRT14 gene.

More info about this panel

Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes Panel

Spain.

By Reference Laboratory Genetics Epidermolysis Bullosa , Deletions-Duplications (MLPA) KRT14, LAMA3, LAMB3, LAMC2 Genes that also includes the following genes: KRT14 LAMA3 LAMB3 LAMC2

More info about this panel

Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes Panel

Spain.

By Reference Laboratory Genetics Epidermolysis Bullosa , Panel Massive Sequencing (NGS) 8 Genes that also includes the following genes: COL17A1 COL7A1 KRT14 KRT5 LAMA3 LAMB3 LAMC2 PLEC

More info about this panel

Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes Panel

Spain.

By Reference Laboratory Genetics Dowling-Degos Disease , Panel Massive Sequencing (NGS) 6 Genes that also includes the following genes: POFUT1 ADAM10 ADAR POGLUT1 KRT14 KRT5

More info about this panel

Epidermolysis Bullosa Simplex: gene sequencing panel Panel

Canada.

By CEN4GEN Institute for Genomics and Molecular Diagnostics Epidermolysis Bullosa Simplex: gene sequencing panel that also includes the following genes: TGM5 EXPH5 KRT14 KRT5

More info about this panel


If you liked this article maybe you will also find interesting the following in-depth articles about other rare diseases, like RELB RAB33A FZD5 PRAMENP GATA2 MUC16

Need help with a diagnosis?

Learn more about how to achieve it with Mendelian


Learn more