Article
[Genotype-phenotype analysis of a Chinese family with split hand/split foot and syndactyly].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics - 1 Aug 2011
Dai Li, Li Na-na, Deng Ying, Mao Meng, Wang He, Zhu Jun
Abstract excerpt
OBJECTIVE: To determine the causative gene mutation in a Chinese family with split hand/split foot malformation (SHFM) and explore the genotype-phenotype relationship. METHODS: Genomic DNA was extracted from peripheral blood samples of the patients and their family members. Polymerase chain reaction (PCR) was performed to amplify all the exons of P63 gene and HOXD13 gene. Then the PCR products were sequenced...
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