Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome-Reference-Cited by-同舟云学术

Genetic Testing Leading to Early Identification of Childhood Ocular Manifestations of Usher Syndrome

Published:2020-10-28 Issue:6 Volume:131 Page:
ISSN:0023-852X
Container-title:The Laryngoscope
language:en
Short-container-title:The Laryngoscope

Author:

Brodie Kara D.¹^ORCID,Moore Anthony T.²,Slavotinek Anne M.³,Meyer Anna K.¹⁴,Nadaraja Garani S.¹⁴,Conrad David E.¹⁴,Weinstein Jacqueline E.¹⁴,Chan Dylan K.¹⁴

Affiliation:

1. Department of Otolaryngology ‐ Head and Neck Surgery University of California San Francisco California U.S.A.

2. Department of Ophthalmology University of California San Francisco California U.S.A.

3. Division of Medical Genetics, Department of Pediatrics University of California San Francisco California U.S.A.

4. Division of Pediatric Otolaryngology—Head and Neck Surgery University of California San Francisco California U.S.A.

Publisher

Wiley

Subject

Otorhinolaryngology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/lary.29193

Reference19 articles.

1. Genetic Epidemiology of Hearing Impairment

2. Frequency of Usher syndrome in two pediatric populations: Implications for genetic screening of deaf and hard of hearing children

3. KennaM.“Usher syndrome.” NORD (National Organization for Rare Disorders). June 5 2018. Available at: rarediseases.org/rare‐diseases/usher‐syndrome/. Accessed 1 September 2020.

4. Marazova K Hardelin J Bonnet C.Usher syndrome. Institut De La Vision Available at:www.institut-vision.org/en/28-diseases/91-usher-syndrom.html?showall=1. Accessed 1 September 2020.

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3. Allelic hierarchy for USH2A influences auditory and visual phenotypes in South Korean patients;Scientific Reports;2023-11-19

4. Exploring the support needs of parents of young children with Usher syndrome: A qualitative approach.;2023-06-30

5. Genome sequencing identifies coding and non-coding variants for non-syndromic hearing loss;Journal of Human Genetics;2023-05-22