Hay-Wells syndrome

3q27 Google OMIM Orphanet PubMed Wikipedia

Hay-Wells syndrome

*Gene map locus 3q27

AEC syndrome

Ankyloblepharon-ectodermal defects-cleft lip/palate

[Clinical features: ectodermal dysplasia; dystrophic nails; hypohidrosis; scalp infections; ankyloblepharon filiforme adnatum; hypodontia; maxillary hypoplasia; cleft lip/palate]

[Inheritance: autosomal dominant]


Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype	Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype	Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype
Archives of Dermatology	Archives of Dermatology	Archives of Dermatology


Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype	Two Novel TP63 Mutations Associated With the Ankyloblepharon, Ectodermal Defects, and Cleft Lip and Palate Syndrome: A Skin Fragility Phenotype	A neonate with denuded skin: Hay-Wells syndrome
Archives of Dermatology	Archives of Dermatology	Canadian Medical Association Journal


A neonate with denuded skin: Hay-Wells syndrome	A neonate with denuded skin: Hay-Wells syndrome	Hay-Wells syndrome is caused by heterozygous missense mutations in the SAM domain of p63
Canadian Medical Association Journal	Canadian Medical Association Journal	Human Molecular Genetics

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Edited by Aldo Campana, February 8, 2010