Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome-Reference-Cited by-同舟云学术

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Analysis of genotype–phenotype relationships in 90 Chinese probands with Waardenburg syndrome

Published:2021-06-17 Issue: Volume: Page:
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Wang Guojian,Li Xiaohong^ORCID,Gao Xue,Su Yu,Han Mingyu,Gao Bo,Guo Chang,Kang Dongyang,Huang Shasha,Yuan Yongyi,Dai Pu

Funder

National Key Research Project

National Key Scientific Instrument and Equipment Development Projects of China

National Natural Science Foundation of China

Beijing Natural Science Foundation

Project of the National Natural Science Foundation of China

Hainan Provincial Department of Science and Technology

Fostering Funds of Chinese PLA General Hospital for National Distinguished Young Scholar

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

https://link.springer.com/content/pdf/10.1007/s00439-021-02301-3.pdf

Reference39 articles.

1. American Academy of Otolaryngology-Head and Neck Surgery Foundation Annual Meetings (1997). In: Otolaryngology-Head and Neck Surgery 117(2):1–260. San Francisco, California

2. Baldwin C (1995) Mutations in PAX3 that cause Waardenburg syndrome type 1: ten new mutations and review of the literature. Am J Med Genet. https://doi.org/10.1002/ajmg.1320580205

3. Baldwin CT, Lipsky NR, Hoth CF, Cohen T, Mamuya W, Milunsky A (1994) Mutations in PAX3 associated with Waardenburg syndrome type I. Hum Hutat 3(3):205. https://doi.org/10.1002/humu.1380030306

4. Bocangel MAP, Melo US, Alves LU, Pardono E, Lourenco NCV, Marcolino HVC, Mingroni-Netto RC (2018) Waardenburg syndrome: novel mutations in a large Brazilian sample. Eur J Med Genet 61(6):348–354. https://doi.org/10.1016/j.ejmg.2018.01.012

5. Bondurand N, Dastot-Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, Pingault V (2007) Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet 81(6):1169–1185. https://doi.org/10.1086/522090

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1. Comprehensive Approach for the Genetic Diagnosis of Patients with Waardenburg Syndrome;Journal of Personalized Medicine;2024-08-27

2. Auditory and speech outcomes of cochlear implantation in patients with Waardenburg syndrome: a meta-analysis;Frontiers in Neurology;2024-07-11

3. Five novel cis-regulatory deletions of SOX10 cause Waardenburg syndrome type II;Frontiers in Audiology and Otology;2024-06-18

4. Deciphering potential causative factors for undiagnosed Waardenburg syndrome through multi-data integration;Orphanet Journal of Rare Diseases;2024-06-06

5. Waardenburg Syndrome and hirschsprung Disease in a child: A case report;Journal of Pediatric Surgery Case Reports;2024-02

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