A novel 22-bp deletion mutation in a Chinese family with X-linked hypohidrotic ectodermal dysplasia.
Arch Dermatol Res
; 300(7): 389-91, 2008 Aug.
Article
in En
| MEDLINE
| ID: mdl-18427821
ABSTRACT
X-linked hypohidrotic ectodermal dysplasia (XLHED) is the most common form of the ectodermal dysplasias characterized by an abnormal development of eccrine sweat glands, hair and teeth. Pathogenic mutations in the ED1 gene have been identified. In this family, a 22-bp deletion mutation of exon 8 in the ED1 gene was found in the affected members but not in the healthy individuals and 100 unrelated controls. We add new variant to the knowledge of ED1 mutations in XLHED.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Asian People
/
Ectodermal Dysplasia 1, Anhidrotic
/
Ectodysplasins
Type of study:
Prognostic_studies
Limits:
Child
/
Humans
/
Male
Language:
En
Journal:
Arch Dermatol Res
Year:
2008
Document type:
Article
Affiliation country: