Identification of a Potential Founder Effect of a Novel PDZD7 Variant Involved in Moderate-to-Severe Sensorineural Hearing Loss in Koreans

PDZD7, a PDZ domain-containing scaffold protein, is critical for the organization of Usher syndrome type 2 (USH2) interactome. Recently, biallelic PDZD7 variants have been associated with autosomal-recessive, non-syndromic hearing loss (ARNSHL). Indeed, we identified novel, likely pathogenic PDZD7 v...

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Detalles Bibliográficos
Autores principales: Lee, Sang-Yeon, Han, Jin Hee, Kim, Bong Jik, Oh, Seung Ha, Lee, Seungmin, Oh, Doo-Yi, Choi, Byung Yoon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2019
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747409/
https://www.ncbi.nlm.nih.gov/pubmed/31454969
http://dx.doi.org/10.3390/ijms20174174

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6747409/
https://www.ncbi.nlm.nih.gov/pubmed/31454969
http://dx.doi.org/10.3390/ijms20174174

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