Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics-Reference-Cited by-同舟云学术

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Spectrum of novel mutations found in Waardenburg syndrome types 1 and 2: implications for molecular genetic diagnostics

Published:2013 Issue:3 Volume:3 Page:e001917
ISSN:2044-6055
Container-title:BMJ Open
language:en
Short-container-title:BMJ Open

Author:

Wildhardt Gabriele,Zirn Birgit,Graul-Neumann Luitgard M,Wechtenbruch Juliane,Suckfüll Markus,Buske Annegret,Bohring Axel,Kubisch Christian,Vogt Stefanie,Strobl-Wildemann Gertrud,Greally Marie,Bartsch Oliver,Steinberger Daniela

Publisher

BMJ

Subject

General Medicine

Cited by 42 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. Waardenburg Syndrome: The Contribution of Next-Generation Sequencing to the Identification of Novel Causative Variants;Audiology Research;2023-12-21

2. Mutation of <em>PAX3</em> and <em>MITF</em> genes in a family with type 1 Waardenburg syndrome: a case series;Medical Journal of Indonesia;2023-10-04

3. A gross deletion of the PAX3 gene in a large Chinese family with Waardenburg syndrome type I;World Journal of Pediatrics;2023-09-14

4. A unique hyperdynamic dimer interface permits small molecule perturbation of the melanoma oncoprotein MITF for melanoma therapy;Cell Research;2023-01-02

5. 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

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