p.E95K mutation in Indian hedgehog causing brachydactyly type A1 impairs IHH/Gli1 downstream transcriptional regulation

Abstract Background Brachydactyly type A1 (BDA1, OMIM 112500) is a rare inherited malformation characterized primarily by shortness or absence of middle bones of fingers and toes. It is the first recorded disorder of the autosomal dominant Mendelian trait. Indian hedgehog (IHH) gene is closely assoc...

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Main Authors: Lu Shen, Gang Ma, Ye Shi, Yunfeng Ruan, Xuhan Yang, Xi Wu, Yuyu Xiong, Chunling Wan, Chao Yang, Lei Cai, Likuan Xiong, Xueli Gong, Lin He, Shengying Qin
Format: Artigo
Language:Inglês
Published: BMC 2019-01-01
Series:BMC Genetics
Subjects:
Brachydactyly type A1
Indian hedgehog
Gli1
E95K
Online Access:http://link.springer.com/article/10.1186/s12863-018-0697-5
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