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Article

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

Scientific reports - 21 Jul 2023

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

Abstract excerpt

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-phenotype correlations and molecular mechanisms of those cases is lacking. We herein identified five SIX1 heterozygous...

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Identifiers

PMID: 37479820
DOI: 10.1038/s41598-023-38909-w
PMCID: PMC10361970

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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