Prenatal diagnosis and genetic analysis of a fetus with Branchio-oto-renal syndrome
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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
创建时间：
2022-08-13
