A novel heterozygous missense mutation 377T > C (V126A) of TGIF gene in a family segregated with holoprosencephaly and moyamoya disease
Prenatal Diagnosis2006Vol. 26(3), pp. 226–230
Citations Over TimeTop 20% of 2006 papers
Ming Chen, Shou‐Jen Kuo, Chin‐San Liu, Wei‐Liang Chen, Tsang‐Ming Ko, Tze‐Ho Chen, Shun‐Ping Chang, Chien‐Hao Huang, Yih‐Yuan Chang, Bao‐Tyan Wang
Abstract
Molecular diagnosis can help genetic counseling in HPE, which is a heterogeneous disorder with its phenotypic and genotypic spectrum highly widened and variable. The possible association between TGIF mutation and moyamoya disease noted in our study also appeared to be novel.
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