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- Title
Camurati-Engelmann disease with obesity in a newly identified family carrying a missense p.Arg156Cys mutation in the TGFB1 gene.
- Authors
Collet, Corinne; Laplanche, Jean-Louis; de Vernejoul, Marie-Christine
- Abstract
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.Arg156Cys) in the latency associated protein (LAP)-coding domain of the TGFB1 gene. This mutation had previously been reported once in another family with a similar, atypical phenotype, which suggests a possible phenotype/genotype relationship.
- Publication
American journal of medical genetics. Part A, 2013, Vol 161A, Issue 8, p2074
- ISSN
1552-4833
- Publication type
Journal Article
- DOI
10.1002/ajmg.a.36022