Associated Papers
Integrated genomic analysis of EDNRB common and rare variants in Hirschsprung disease.
Zuo X et al.
Genes & Diseases, 2026
High incidence of EDNRB gene mutation in seven southern Chinese familial cases with Hirschsprung's disease.
Ding HY et al.
Pediatric Surgery International, 2024
Identification of nine novel variants across PAX3, SOX10, EDNRB, and MITF genes in Waardenburg syndrome with next-generation sequencing.
Lee CY et al.
Molecular Genetics & Genomic Medicine, 2022
Waardenburg syndrome type 4 coexisting with open-angle glaucoma: a case report.
Zhang L et al.
Journal of Medical Case Reports, 2022
Next-generation sequencing identifies rare pathogenic and novel candidate variants in a cohort of Chinese patients with syndromic or nonsyndromic hearing loss.
Xiang YB et al.
Molecular Genetics & Genomic Medicine, 2020
Global genetic insight contributed by consanguineous Pakistani families segregating hearing loss.
Richard EM et al.
Human Mutation, 2019
New Genotypes and Phenotypes in Patients with 3 Subtypes of Waardenburg Syndrome Identified by Diagnostic Next-Generation Sequencing.
Li W et al.
Neural Plasticity, 2019
Genetic analysis of a Chinese family with members affected with Usher syndrome type II and Waardenburg syndrome type IV.
Wang X et al.
International Journal of Pediatric Otorhinolaryngology, 2017
The genomic landscape of pediatric Ewing sarcoma.
Crompton BD et al.
Cancer Discovery, 2014
25186949 (PubMed )
Supplement: 21598290cd131037-sup-124608_2_supp_2613703_njcnpj.xlsx › Mutation_List_TN
Novel mutations of endothelin-B receptor gene in Pakistani patients with Waardenburg syndrome.
Jabeen R et al.
Molecular Biology Reports, 2012
Mutation analysis of endothelin-B receptor gene in patients with Hirschsprung disease in Taiwan.
Lin YC et al.
Journal of Pediatric Gastroenterology and Nutrition, 2008
[Coding-sequence mutation and polymorphism analysis of EDNRB gene in patients with Hirschsprung's disease from Zhejiang region].
Zhou MN et al.
Fen Zi Xi Bao Sheng Wu Xue Bao = Journal of Molecular Cell Biology, 2006
Highly recurrent RET mutations and novel mutations in genes of the receptor tyrosine kinase and endothelin receptor B pathways in Chinese patients with sporadic Hirschsprung disease.
Garcia-Barceló M et al.
Clinical Chemistry, 2004
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