Article
Elucidation of penetrance variability of a ZIC3 mutation in a family with complex heart defects and functional analysis of ZIC3 mutations in the first zinc finger domain.
Human mutation - 1 Jun 2007
Chhin Brigitte, Hatayama Minoru, Bozon Dominique, Ogawa Miyuki, Schön Patric, Tohmonda Takahide, Sassolas François, Aruga Jun, Valard Anna-Gaëlle, Chen Su-Chiung, Bouvagnet Patrice
Abstract excerpt
We studied a series of 42 cases of transposition of the great arteries (TGA), a complex heart defect (CHD) that is two times more prevalent in males than in females. A mutation in the X chromosome at the ZIC3 gene was found in two affected siblings (one male, one female) and their unaffected moth...
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