ArticleFrontiers in pediatrics2025
Identification of a novel SALL4 variant associated with unilateral renal agenesis and right renal pelvis duplication by prenatal exome sequencing: a case report.
Article in Frontiers in pediatrics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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Abstract
Congenital renal anomalies are one of the leading causes of perinatal and neonatal mortality in children. Here, we present a case of a 17-week-6-day pregnant patient, in whom prenatal ultrasound confirmed the fetal right duplex kidney and left renal agenesis, leading to termination of pregnancy at the patient's request. Whole-exome sequencing were conducted on the fetus and its parents to identify the cause of the fetal ultrasound abnormalities, followed by validation with Sanger sequencing and CMA/SNP-Array. Bioinformatics analysis assessed the pathogenicity of the mutation site using SIFT, PolyPhen-2, and Mutation Taster. A
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