Article

Early Prenatal Diagnosis of Simpson-Golabi-Behmel Syndrome (SGBS): Ultrasound Indicators of Suspicion and Molecular Assessment. A Case Report

2026-05-05

Abstract excerpt

<title>Abstract</title> <p> Background Simpson-Golabi-Behmel Syndrome (SGBS, OMIM #312870) is a complex, X-linked condition caused by loss-of-function variants of the gene <italic>GPC3</italic> , typically resulting in overgrowth and congenital defects. Prenatal diagnosis, often delayed by the non-specificity of some of the clinical signs, remains a significant challenge. Case Summary: We report the clinical...

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Literature Corpus work: a90c8ec1-a340-5539-9580-03c30fcefa94
DOI: 10.21203/rs.3.rs-8778792/v1

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