A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome-Reference-Cited by-同舟云学术

A novel de novo nonsense mutation in ZC4H2 causes Wieacker‐Wolff Syndrome

Published:2019-12-30 Issue:2 Volume:8 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Wang Dan¹,Hu Dongjie¹,Guo Zhichao²,Hu Rong¹,Wang Qunxian¹,Liu Yannan¹,Liu Mingjing¹,Meng Zijun¹,Yang Huan¹,Zhang Yun³,Cai Fang³,Zhou Weihui¹,Song Weihong¹³^ORCID

Affiliation:

1. Chongqing City Key Lab of Translational Medical Research in Cognitive Development and Learning and Memory Disorders, and Ministry of Education Key Lab of Child Development and Disorders Children’s Hospital of Chongqing Medical University Chongqing China

2. Department of Internal Neurology Children’s Hospital of Chongqing Medical University Chongqing China

3. Townsend Family Laboratories Department of Psychiatry The University of British Columbia Vancouver BC Canada

Funder

Canada Research Chairs

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.1100

Reference24 articles.

1. Methylation of HpaII and HhaI sites near the polymorphic CAG repeat in the human androgen‐receptor gene correlates with X chromosome inactivation;Allen R. C.;American Journal of Human Genetics,1992

2. Arthrogryposis: A Review and Update

3. Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

4. Wieacker-Wolff syndrome with associated cleft palate in a female case

5. Arthrogryposis (multiple congenital contractures) associated with failed termination of pregnancy

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