A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II-Reference-Cited by-同舟云学术

A novel dominant mutation in the SOX10 gene in a Chinese family with Waardenburg syndrome type�II

Published:2019-01-03 Issue: Volume: Page:
ISSN:1791-2997
Container-title:Molecular Medicine Reports
language:
Short-container-title:Mol Med Report

Author:

Ma Jing¹,Zhang Zhen²,Jiang Hong‑Chao²,Sun Hao³,Ming Cheng¹,Zhao Li‑Ping¹,Gao Ying‑Qin¹,Li Zheng‑Cai¹,Sun Mei‑Hua¹,Xiao Yang¹,Wu Guo‑Li⁴,Zhang Tie‑Song¹,Ruan Biao⁵

Affiliation:

1. Department of Otolaryngology, Head and Neck Surgery, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China

2. Yunnan Pediatric Institute, Kunming Children's Hospital, Kunming, Yunnan 650228, P.R. China

3. Institute of Medical Biology, Chinese Academy of Medical Sciences and Peking Union of Medical College, Kunming, Yunnan 650118, P.R. China

4. Yunnan Rehabilitation School For Children With Hearing Impairment, Kunming, Yunnan 650100, P.R. China

5. Department of Otolaryngology, First Hospital of Kunming Medical University, Kunming, Yunnan 650032, P.R. China

Publisher

Spandidos Publications

Subject

Cancer Research,Oncology,Genetics,Molecular Biology,Molecular Medicine,Biochemistry

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1. Three novel variants in SOX10 gene: Waardenburg and PCWH syndromes;Egyptian Journal of Medical Human Genetics;2022-03-06

2. Case Report: A Deletion Variant in the DCAF17 Gene Underlying Woodhouse-Sakati Syndrome in a Chinese Consanguineous Family;Frontiers in Genetics;2021-09-23

3. Frameshift variant in MITF gene in a large family with Waardenburg syndrome type II and a co-segregation of a C2orf74 variant;PLOS ONE;2021-02-11

4. Phenotypic similarities in pigs with SOX10 and SOX10 mutations implied the correlation of SOX10 haploinsufficiency with Waardenburg syndrome;Journal of Genetics and Genomics;2020-12

5. Juvenile Open-angle Glaucoma With Waardenburg Syndrome: A Case Report;Journal of Glaucoma;2020-09-22