A novel variant of <i>GLI3</i> , p. <scp>Asp1514Thrfs</scp> *5, is identified in a Chinese family affected by polydactyly-Reference-Cited by-同舟云学术

A novel variant of GLI3 , p. Asp1514Thrfs *5, is identified in a Chinese family affected by polydactyly

Published:2022-05-12 Issue:7 Volume:10 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Molec Gen & Gen Med

Author:

Wang Yusi¹²,Hao Xuguang³,Jia Xueyuan¹²,Ji Wei¹²,Yuan Shuai¹²^ORCID,Gnamey Estelle Judith Abla¹²,Huang Min¹²,Xu Lidan¹²,Zhang Xuelong¹²,Bai Jing¹²,Sun Wenjing¹²^ORCID,Fu Songbin¹²^ORCID,Liu Yong³,Wu Jie¹²

Affiliation:

1. Laboratory of Medical Genetics Harbin Medical University Harbin China

2. Key Laboratory of Preservation of Human Genetic Resources and Disease Control in China (Harbin Medical University) Ministry of Education Harbin China

3. Department of Hand Surgery the Fifth Hospital of Harbin Harbin China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1968

Reference25 articles.

1. The pathogenesis of ulnar polydactyly in humans

2. GLI3-related polydactyly: a review

3. Nonsense-mediated decay and the molecular pathogenesis of mutations inSALL1 andGLI3

4. The molecular basis of Pallister Hall associated polydactyly

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