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Article

Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.

American journal of medical genetics. Part A - 1 Aug 2013

Collet Corinne, Laplanche Jean-Louis, de Vernejoul Marie-Christine

Abstract excerpt

We report on a family affected by Camurati-Engelmann disease, characterized by radiological signs limited to the tibia, and associated with overweight or obesity, which is not a known feature of this disorder. The affected patients were heterozygous for a c.466C > T mutation (which predicts p.Arg...

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Source

Identifiers

PMID: 23824952
DOI: 10.1002/ajmg.a.36022

Genes

TGFB1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23824952-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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