Ontology highlight
ABSTRACT:
SUBMITTER: Wang X
PROVIDER: S-EPMC4135423 | biostudies-literature | 2014 Sep
REPOSITORIES: biostudies-literature
Wang Xue X Xin Qian Q Li Lin L Li Jiangxia J Zhang Changwu C Qiu Rongfang R Qian Chenmin C Zhao Hailing H Liu Yongchao Y Shan Shan S Dang Jie J Bian Xianli X Shao Changshun C Gong Yaoqin Y Liu Qiji Q
European journal of human genetics : EJHG 20140205 9
Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candidat ...[more]