De novo mutation of the latency-associated peptide domain of TGFB3 in a patient with overgrowth and Loeys-Dietz syndrome features

Am J Med Genet A. 2014 Aug;164A(8):2141-3. doi: 10.1002/ajmg.a.36593. Epub 2014 May 5.

Authors

Gabor Matyas¹, Paulina Naef, Martin Tollens, Konrad Oexle

Affiliation

¹ Center for Cardiovascular Genetics and Gene Diagnostics, Foundation for People with Rare Diseases, Zurich, Switzerland; Zurich Center of Integrative Human Physiology, University of Zurich, Zurich, Switzerland.

PMID: 24798638
DOI: 10.1002/ajmg.a.36593

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Animals
Arthrogryposis / genetics*
Female
Growth Disorders / genetics*
Humans
Loeys-Dietz Syndrome / genetics*
Male
Marfan Syndrome / genetics*
Muscle Weakness / genetics*
Mutation / genetics*
Transforming Growth Factor beta3 / genetics*

Substances

Transforming Growth Factor beta3