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Article

Simpson-Golabi-Behmel syndrome.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Dec 2024

Vaisfeld Alessandro, Neri Giovanni

Abstract excerpt

The Simpson-Golabi-Behmel syndrome (SGBS; OMIM 312870) is an overgrowth/multiple congenital anomalies/dysplasia condition, inherited as an X-linked semi-dominant trait, with variable expressivity in males and reduced penetrance and expressivity in females. The clinical spectrum is broad, ranging from mild manifestations in both males and females to multiple malformations and neonatal death in the more severely...

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Source

Identifiers

PMID: 38766979
DOI: 10.1002/ajmg.c.32088

Genes

GPC3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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