A novel PAX3 mutation in a Japanese boy with Waardenburg syndrome type 1.
Hum Genome Var
; 3: 16005, 2016.
Article
in En
| MEDLINE
| ID: mdl-27081571
ABSTRACT
Waardenburg syndrome type 1 (WS1) is a rare autosomal dominant disorder characterized by hair hypopigmentation, abnormal iris pigmentation, and congenital hearing loss. WS1 is caused by mutations in paired box gene 3 (PAX3). We identified a novel PAX3 mutation (c.1107 C>G, p.Ser369Arg) in a Japanese WS1 patient showing abnormal right iris pigmentation, right-sided congenital hearing loss, synophrys, incomplete left cleft lip, and cryptorchidism.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Language:
En
Journal:
Hum Genome Var
Year:
2016
Type:
Article
Affiliation country:
Japan