Novel compound heterozygous
Journal
Human genome variation
ISSN: 2054-345X
Titre abrégé: Hum Genome Var
Pays: England
ID NLM: 101652445
Informations de publication
Date de publication:
2019
2019
Historique:
received:
11
06
2018
revised:
10
11
2018
accepted:
09
12
2018
entrez:
19
2
2019
pubmed:
19
2
2019
medline:
19
2
2019
Statut:
epublish
Résumé
Usher syndrome type I (USH1) is characterized by congenital, bilateral, profound sensorineural hearing loss, vestibular areflexia, and adolescent-onset retinitis pigmentosa. Here, we report a 12-year-old female patient with typical USH1. Targeted panel sequencing revealed compound heterozygous variants of the
Identifiants
pubmed: 30774966
doi: 10.1038/s41439-019-0037-y
pii: 37
pmc: PMC6348282
doi:
Types de publication
Case Reports
Langues
eng
Pagination
8Déclaration de conflit d'intérêts
The authors declare no competing interests.
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