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

Caixia Xu | Xiaoming Yang | Hang Zhou | Yongyong Li | Chao Xing | Taifeng Zhou | Dongmei Zhong | Chengjie Lian | Mei Yan | Tao Chen | Zhiheng Liao | Bo Gao | Deying Su | Tingting Wang | Swarkar Sharma | Chandra Mohan | Nadav Ahituv | Sajid Malik | Quan-Zhen Li | Peiqiang Su
Genetics in medicine : official journal of the American College of Medical Genetics | 2020

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 the underlying mechanisms are unknown.

Pubmed ID: 31395945

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