Whole exome sequencing identifies a pathogenic mutation in WFS1 in two large Chinese families with autosomal dominant all-frequency hearing loss and prenatal counseling
Author:
Funder
Natural Science Foundation of Jiangsu Province
Publisher
Elsevier BV
Subject
Otorhinolaryngology,General Medicine,Pediatrics, Perinatology, and Child Health
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4. Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia;Musunuru;N. Engl. J. Med.,2010
5. Mutations in CDC14A, encoding a protein phosphatase involved in hair cell ciliogenesis, cause autosomal-recessive severe to profound deafness;Delmaghani;Am. J. Hum. Genet.,2016
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3. WFS1 autosomal dominant variants linked with hearing loss: update on structural analysis and cochlear implant outcome;BMC Medical Genomics;2023-04-11
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