Prenatal phenotypic delineation of a de novo EYA1 likely pathogenic variant in branchio-oto-renal syndrome

Abstract Background Branchio-oto-renal (BOR; MIM 113650) syndrome is primarily linked to pathogenic variants in the EYA1 gene. Although over 200 pathogenic variants of the EYA1 gene have been reported, validation of the pathogenicity of novel variants and the aggregation of prenatal phenotypes are c...

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Главные авторы:	Lei Sun, Defeng Shu, Wencong He, Ruilin Ma, Hui Tao, Zejun Yang, Yanan Li, Ziyang Liu, Yang Zhang, Yin Zhao
Формат:	Artigo
Язык:	Inglês
Опубликовано:	BMC 2026-04-01
Серии:	BMC Medical Genomics
Предметы:	EYA1 gene Branchio-oto-renal syndrome Whole-exome sequencing Minigene splicing assay
Online-ссылка:	https://doi.org/10.1186/s12920-026-02366-x
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