Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic-Reference-Cited by-同舟云学术

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Outcomes of evaluation and testing of 660 individuals with hearing loss in a pediatric genetics of hearing loss clinic

Published:2016-08-02 Issue:10 Volume:170 Page:2523-2530
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Mehta Devanshi¹,Noon Sarah E.¹,Schwartz Emily¹,Wilkens Alisha¹,Bedoukian Emma C.¹,Scarano Irene¹,Crenshaw E. Bryan²³,Krantz Ian D.¹⁴

Affiliation:

1. Division of Human Genetics; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

2. Center for Childhood Communication; The Children's Hospital of Philadelphia; Philadelphia Pennsylvania

3. Department of Otorhinolaryngology: Head and Neck Surgery; Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

4. The Perelman School of Medicine at the University of Pennsylvania; Philadelphia Pennsylvania

Funder

National Human Genome Research Institute

National Institute on Deafness and Other Communication Disorders

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37855/fullpdf

Reference28 articles.

1. Comprehensive analysis of deafness genes in families with autosomal recessive nonsyndromic hearing loss;Atik;PLoS ONE,2015

2. A novel mutation in the TMC1 gene causes non-syndromic hearing loss in a Moroccan family;Bakhchane;Gene,2015

3. Progressive hearing loss, hypoplasia of the cochlea, and widened vestibular aqueducts are very common features in Pendred's syndrome;Cremers;Int J Pediatr Otorhinolaryngol,1998

4. A genotype-phenotype correlation for GJB2 (connexin 26) deafness;Cryns;J Med Genet,2004

5. A novel deletion involving the connexin-30 gene, del(GJB6-d13s1854), found in trans with mutations in the GJB2 gene (connexin-26) in subjects with DFNB1 non-syndromic hearing impairment;del Castillo;J Med Genet,2005

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3. Genetics evaluation outcomes of patients with pediatric hearing loss: 2008–2022 retrospective study;American Journal of Otolaryngology;2024-03

4. Congenital Hearing Loss Seen in Neonates;Principles of Neonatology;2024

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