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Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome: A case report

Branchio-oto-renal (BOR) syndrome is an autosomal-dominant disorder characterized by branchial arch anomalies, hearing loss, and kidney defects. Mutations in the human EYA1 gene have been reported associated with BOR syndrome. Here we identified that a novel variant, EYA1: NM_000503.4: c.827-1G >...

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Detalles Bibliográficos
Autores principales:	Tang, Ping, Li, Jiarui, Li, Jun, Yang, Juan, Zhu, Jianjun
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Lippincott Williams & Wilkins 2022
Materias:	3500
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9622624/ https://www.ncbi.nlm.nih.gov/pubmed/36316881 http://dx.doi.org/10.1097/MD.0000000000031172

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