A novel ZRS variant causes preaxial polydactyly type I by increased sonic hedgehog expression in the developing limb bud

PURPOSE: Preaxial polydactyly (PPD) is a common congenital hand malformation classified into four subtypes (PPD I–IV). Variants in the zone of polarizing activity regulatory sequence (ZRS) within intron 5 of the LMBR1 gene are linked to most PPD types. However, the genes responsible for PPD I and th...

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書誌詳細
出版年:Genet Med
主要な著者: Xu, Caixia, Yang, Xiaoming, Zhou, Hang, Li, Yongyong, Xing, Chao, Zhou, Taifeng, Zhong, Dongmei, Lian, Chengjie, Yan, Mei, Chen, Tao, Liao, Zhiheng, Gao, Bo, Su, Deying, Wang, Tingting, Sharma, Swarkar, Mohan, Chandra, Ahituv, Nadav, Malik, Sajid, Li, Quan-Zhen, Su, Peiqiang
フォーマット: Artigo
言語:Inglês
出版事項: Nature Publishing Group US 2019
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Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC6944640/
https://ncbi.nlm.nih.gov/pubmed/31395945
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41436-019-0626-7
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