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Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family

✍ Scribed by Yiping Shen; Xiaoli Chen; Liwen Wang; Jin Guo; Jianliang Shen; Yu An; Haitao Zhu; Yanli Zhu; Ruolei Xin; Yihua Bao; James F. Gusella; Ting Zhang; Bai-Lin Wu


Publisher
John Wiley and Sons
Year
2010
Tongue
English
Weight
351 KB
Volume
156
Category
Article
ISSN
1552-4841

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## Abstract Haploinsufficiency of chromosome 22q11.2 is a well‐established cause of both the DiGeorge anomaly and the velocardiofacial syndrome. This condition shows a continuous spectrum of phenotypic manifestations with a considerable inter‐ and intrafamilial variability. We report on a three‐gen