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

Autor: Matyas G; 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., Naef P, Tollens M, Oexle K
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2014 Aug; Vol. 164A (8), pp. 2141-3. Date of Electronic Publication: 2014 May 05.
DOI: 10.1002/ajmg.a.36593
Databáze: MEDLINE