Pitfalls in clinical diagnosis of female carriers of x-linked hypohidrotic ectodermal dyspilasia [6]

Archives of Dermatology

Volumn 138, Issue 9, 2002, Pages 1256-1258

  Vincent, Marie Claire ^a   Cossée, Mireille ^a   Vabres, Pierre ^a   Stewart, Fiona ^a   Bonneau, Dominique ^a   Calvas, Patrick ^a  

^a TOULOUSE UNIVERSITY HOSPITAL   (France)

Author keywords

[No Author keywords available]

Indexed keywords

ADULT; ANAMNESIS; CASE REPORT; CLINICAL EXAMINATION; DIAGNOSTIC ERROR; FEMALE; GENE MUTATION; GENETIC RISK; HAPLOTYPE; HETEROZYGOTE; HUMAN; HYPOHIDROTIC ECTODERMAL DYSPLASIA; LETTER; PRIORITY JOURNAL; X CHROMOSOME LINKAGE;

EID: 0036718564     PISSN: 0003987X     EISSN: None     Source Type: Journal    
DOI: 10.1001/archderm.138.9.1256     Document Type: Letter

References (5)

1. Hypohidrotic ectodermal dysplasia
2. Mutational spectrum of the ED1 gene in X-linked hypohidrotic ectodermal dysplasia
3. Mutations leading to X-linked hypohidrotic ectodermal dysplasia affect three major functional domains in the tumor necrosis factor family member ectodysplasin-A
4. Christ-Siemens-Touraine syndrome: Investigations on two large Brazilian kindreds with a new estimate of the manifestation rate among carriers
5. Clinical finding in mosaic carriers of hypohidrotic ectodermal dysplasia