A novel GJB6 missense mutation in hidrotic ectodermal dysplasia 2 (Clouston syndrome) broadens its genotypic basis

British Journal of Dermatology

Volumn 159, Issue 6, 2008, Pages 1373-1376

  Baris, H N ^a,b   Zlotogorski, A ^c   Peretz Amit, G ^a   Doviner, V ^d   Shohat, M ^a,b   Reznik Wolf, H ^e   Pras, E ^b,e  

^a RABIN MEDICAL CENTER   (Israel)

^b TEL AVIV UNIVERSITY   (Israel)

^c The Center for Genetic Diseases of the Skin and Hair   (Israel)

^d HADASSAH HEBREW UNIVERSITY MEDICAL CENTER   (Israel)

^e GERTNER INSTITUTE FOR EPIDEMIOLOGY AND HEALTH POLICY RESEARCH   (Israel)

Author keywords

Clouston syndrome; Connexin 30; GJB6; Hidrotic ectodermal dysplasia 2

Indexed keywords

CONNEXIN 30;

ADULT; ARTICLE; CASE REPORT; DNA EXTRACTION; DRY SKIN; ERYTHEMA; EYEBROW; EYELASH; FEMALE; GENE SEQUENCE; GENOTYPE; HAIR DISEASE; HIDROTIC ECTODERMAL DYSPLASIA; HUMAN; HUMAN TISSUE; HYPERHIDROSIS; HYPERKERATOSIS; INFANT; MALE; MISSENSE MUTATION; NAIL DYSPLASIA; PRIORITY JOURNAL; SKIN MANIFESTATION; WINTER;

CONNEXINS; ECTODERMAL DYSPLASIA; FEMALE; HUMANS; INFANT; MALE; MUTATION, MISSENSE; POLYMERASE CHAIN REACTION; YOUNG ADULT;

EID: 56549127388     PISSN: 00070963     EISSN: 13652133     Source Type: Journal    
DOI: 10.1111/j.1365-2133.2008.08796.x     Document Type: Article

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