A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease
Journal
Prenatal diagnosis
Journal Volume
26
Journal Issue
3
Pages
226
Date Issued
2006-03
Author(s)
MING CHEN
Kuo, Shou-Jen
Liu, Chin-San
Chen, Wei-Liang
Chen, Tze-Ho
Chang, Shun-Ping
Huang, Chien-Hao
Chang, Yih-Yuan
Wang, Bao-Tyan
Abstract
To identify whether any mutations of candidate genes including SHH, ZIC2, SIX3, and TGIF exist in a Taiwanese family segregated with holoprosencephaly (HPE) and moyamoya disease.
Subjects
Holoprosencephaly | Missense mutation | Moyamoya disease | Polymorphism | TGIF
Publisher
JOHN WILEY & SONS LTD
Type
journal article