Exome Sequencing Identifies a c.148-1G>C Mutation of TBX5 in a Holt-Oram Family with Unusual Genotype-Phenotype Correlations

Background/Aims: Congenital heart defects (CHD) can occur with upper limbs deformities. Holt-Oram syndrome is the main type of heart-hand syndromes, characterized by upper limb radial ray malformations, CHD and/or conduction abnormalities. Mutations of the TBX5 gene, most of which are found within t...

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Auteurs principaux:	Qianqian Guo, Jia Shen, Yang Liu, Tian Pu, Kun Sun, Sun Chen
Format:	Artigo
Langue:	Inglês
Publié:	Cell Physiol Biochem Press GmbH & Co KG 2015-09-01
Collection:	Cellular Physiology and Biochemistry
Sujets:	Exome sequencing Holt-Oram syndrome Mutations TBX5
Accès en ligne:	http://www.karger.com/Article/FullText/430232
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