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Article

Prenatal diagnosis of Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part A - 1 Dec 2016

Magini Pamela, Palombo Flavia, Boito Simona, Lanzoni Giulia, Mongelli Patrizia, Rizzuti Tommaso, Baccarin Marco, Pippucci Tommaso, Seri Marco, Lalatta Faustina

Abstract excerpt

Simpson-Golabi-Behmel syndrome (SGBS) is an overgrowth syndrome and it is usually diagnosed postnatally, on the basis of phenotype. Prenatal ultrasonography may show fetal alterations, but they are not pathognomonic and most of them are frequently detectable only from the 20th week of gestation. Nevertheless, early diagnosis is important to avoid neonatal complications and make timely and informed decisions about...

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Source

Identifiers

PMID: 27612164
DOI: 10.1002/ajmg.a.37873

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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