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Article

Prenatal findings in carpenter syndrome and a novel mutation in RAB23.

American journal of medical genetics. Part A - 1 Nov 2014

Haye Damien, Collet Corinne, Sembely-Taveau Catherine, Haddad Georges, Denis Christelle, Soulé Nathalie, Suc Annie-Laure, Listrat Antoine, Toutain Annick

Abstract excerpt

Carpenter syndrome is caused by mutations of the RAB23 gene. To date, 12 distinct mutations have been identified among 34 patients from 26 unrelated families. We report on the prenatal findings in a fetus with Carpenter syndrome with a novel RAB23 mutation. Cystic hygroma, bowed femora, abnormal skull shape and a complex heart defect were seen on ultrasound scan, and Carpenter syndrome was diagnosed at birth....

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Source

Identifiers

PMID: 25168863
DOI: 10.1002/ajmg.a.36726

Genes

RAB23

Variants

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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