Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother

Author:

Shen J.1,Zhang J.1,Wang Z.1,Ni C.1,Li H.1,Cheng R.1,Liang J.1,Li M.1,Yao Z.1

Affiliation:

1. Department of Dermatology; Xinhua Hospital; Shanghai Jiaotong University School of Medicine; Shanghai China

Funder

Natural Science Foundation of Shanghai

National Nature Science Foundation of China

Ph.D. Programs Foundation of Ministry of Education of China

Publisher

Wiley

Subject

Infectious Diseases,Dermatology

Cited by 4 articles. 订阅此论文施引文献 订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献

1. Mosaic Manifestation of Autosomal Dominant Skin Disorders;Mosaicism in Human Skin;2022-11-24

2. A KRT6A mutation p.Ile462Asn in a Chinese family with pachyonychia congenita, and identification of maternal mosaicism: a case report;BMC Medical Genomics;2021-11-01

3. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2017

4. Epidermolysis Bullosa;Atlas of Genetic Diagnosis and Counseling;2016

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