Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1-Reference-Cited by-同舟云学术

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Homozygous EDNRB mutation in a patient with Waardenburg syndrome type 1

Published:2018-04 Issue:2 Volume:45 Page:222-226
ISSN:0385-8146
Container-title:Auris Nasus Larynx
language:en
Short-container-title:Auris Nasus Larynx

Author:

Morimoto Noriko,Mutai Hideki,Namba Kazunori,Kaneko Hiroki,Kosaki Rika,Matsunaga Tatsuo

Funder

National Hospital Organization

Ministry of Health, Labour, and Welfare

Publisher

Elsevier BV

Subject

General Medicine,Otorhinolaryngology,Surgery

Reference18 articles.

1. Waardenburg syndrome type I;Milunsky,2014

2. Waardenburg syndrome;Read;J Med Genet,1997

3. Review and update of mutations causing Waardenburg syndrome;Pingault;Hum Mutat,2010

4. Heterozygous endothelin receptor B (EDNRB) mutations in isolated Hirschsprung disease;Amiel;Hum Mol Genet,1996

5. Functional analysis of five endothelin-B receptor mutations found in human Hirschsprung disease patients;Abe;Biochem Biophys Res Commun,2000

Cited by 19 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. Hirschsprung’s disease: m6A methylase VIRMA suppresses cell migration and proliferation by regulating GSK3β;Pediatric Research;2024-04-24

2. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants;Audiology Research;2023-12-21

3. Identification of nine novel variants across PAX3 , SOX10 , EDNRB , and MITF genes in Waardenburg syndrome with next‐generation sequencing;Molecular Genetics & Genomic Medicine;2022-11-04

4. Genetic heterogeneity in GJB2, COL4A3, ATP6V1B1 and EDNRB variants detected among hearing impaired families in Morocco;Molecular Biology Reports;2022-03-17

5. Identification of eight novel variants across PAX3, SOX10, EDNRB and MITF genes in Waardenburg syndrome with next-generation sequencing;2022-01-27

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