Phenotypic and molecular basis of SIX1 variants linked to non-syndromic deafness and atypical branchio-otic syndrome in South Korea

Branchio-oto-renal (BOR)/branchio-otic (BO) syndrome is a rare disorder and exhibits clinically heterogenous phenotypes, marked by abnormalities in the ear, branchial arch, and renal system. Sporadic cases of atypical BOR/BO syndrome have been recently reported; however, evidence on genotype–phenoty...

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Detalles Bibliográficos
Autores principales: Lee, Somin, Yun, Yejin, Cha, Ju Hyuen, Han, Jin Hee, Lee, Dae Hee, Song, Jae-Jin, Park, Moo Kyun, Lee, Jun Ho, Oh, Seung Ha, Choi, Byung Yoon, Lee, Sang-Yeon
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10361970/
https://www.ncbi.nlm.nih.gov/pubmed/37479820
http://dx.doi.org/10.1038/s41598-023-38909-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10361970/
https://www.ncbi.nlm.nih.gov/pubmed/37479820
http://dx.doi.org/10.1038/s41598-023-38909-w

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