Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus-Reference-Cited by-同舟云学术

Aberrant COL11A1 splicing causes prelingual autosomal dominant nonsyndromic hearing loss in the DFNA37 locus

Published:2020-11-11 Issue:1 Volume:42 Page:25-30
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Rad Aboulfazl¹^ORCID,Schade‐Mann Thore¹,Gamerdinger Philipp¹,Yanus Grigoriy A.²³^ORCID,Schulte Björn⁴,Müller Marcus¹^ORCID,Imyanitov Evgeny N.²³⁵,Biskup Saskia⁴,Löwenheim Hubert¹^ORCID,Tropitzsch Anke¹,Vona Barbara¹^ORCID

Affiliation:

1. Department of Otolaryngology–Head & Neck Surgery, Tübingen Hearing Research Centre Eberhard Karls University Tübingen Tübingen Germany

2. Department of Medical Genetics Saint Petersburg State Pediatric Medical University Saint Petersburg Russia

3. Department of Tumor Growth Biology N. N. Petrov Institute of Oncology Saint Petersburg Russia

4. CeGaT GmbH and Praxis für Humangenetik Tübingen Tübingen Germany

5. Department of Oncology I. I. Mechnikov North‐Western Medical University Saint Petersburg Russia

Funder

Ministerium für Wissenschaft, Forschung und Kunst Baden-Württemberg

Eberhard Karls Universität Tübingen

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24136

Reference8 articles.

1. Genomic Landscape and Mutational Signatures of Deafness-Associated Genes

2. Audiologic manifestations of Marshall syndrome;Bacciu A.;Otology & Neurotology,2018

3. Splice-altering variant in COL11A1 as a cause of nonsyndromic hearing loss DFNA37

4. Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes

5. Novel Loss-of-Function Variants in CDC14A are Associated with Recessive Sensorineural Hearing Loss in Iranian and Pakistani Patients

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