A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss-Reference-Cited by-同舟云学术

A de novo SIX1 variant in a patient with a rare nonsyndromic cochleovestibular nerve abnormality, cochlear hypoplasia, and bilateral sensorineural hearing loss

Published:2019-10-08 Issue:12 Volume:7 Page:
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Kari Elina¹^ORCID,Llaci Lorida²,Go John L.³,Naymik Marcus²,Knowles James A.⁴,Leal Suzanne M.⁵,Rangasamy Sampath²,Huentelman Matthew J.²,Friedman Rick A.¹,Schrauwen Isabelle²⁵^ORCID

Affiliation:

1. Division of Otolaryngology, Head and Neck Surgery Department of Surgery University of California, San Diego La Jolla CA USA

2. Neurogenomics Division and Center for Rare Childhood Disorders Translational Genomics Research Institute Phoenix AZ USA

3. Department of Radiology Keck School of Medicine University of Southern California Los Angeles CA USA

4. Department of Cell Biology ‐ MSC 5 SUNY Downstate Medical Center Brooklyn NY USA

5. Center for Statistical Genetics, Molecular and Human Genetics Department Baylor College of Medicine Houston TX USA

Funder

American Hearing Research Foundation

National Institutes of Health

Publisher

Wiley

Subject

Genetics (clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.995

Reference44 articles.

1. Cochlear Implant Outcomes in Cochlea Nerve Aplasia and Hypoplasia

2. Cochlear Implantation in Children with Congenital Inner Ear Malformations

3. Cochlear implantation in children with labyrinthine anomalies and cochlear nerve deficiency: Implications for auditory brainstem implantation

4. Aplasia and hypoplasia of the vestibulocochlear nerve: diagnosis with MR imaging.

5. CDC. (n.d.).Hearing loss in children. Retrieved fromhttp://www.cdc.gov/ncbddd/hearingloss/data.html

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