Ontology highlight
ABSTRACT:
SUBMITTER: Li H
PROVIDER: S-EPMC2986254 | biostudies-literature | 2009 May
REPOSITORIES: biostudies-literature
Li Hui H Wang Cheng-Ye CY Wang Jia-Xin JX Wu Gui-Sheng GS Yu Ping P Yan Xiao-Yi XY Chen Yong-Gang YG Zhao Lu-Hang LH Zhang Ya-Ping YP
European journal of human genetics : EJHG 20081210 5
Mutations in the long-range limb-specific cis-regulator (ZRS) could cause ectopic shh gene expression and are responsible for preaxial polydactyly (PPD). In this study, we analyzed a large Chinese isolated autosomal dominant PPD pedigree. By fine mapping and haplotype construction, we located the linked region to a 1.7 cM interval between flanking markers D7S2465 and D7S2423 of chromosome 7q36. We directly sequenced the candidate loci in this linked region, including the coding regions of the fi ...[more]