Homozygosity for a FBN1 missense mutation causes a severe Marfan syndrome phenotype.

Autor:	Hogue, J, Lee, C, Jelin, A, Strecker, MN, Cox, VA, Slavotinek, AM
Předmět:	HOMOZYGOSITY MARFAN syndrome MEXICAN American women DISEASES
Zdroj:	Clinical Genetics; Oct2013, Vol. 84 Issue 4, p392-393, 2p, 1 Black and White Photograph, 1 Chart
Abstrakt:	A letter to the editor is presented which discusses the case of a Mexican-American woman with severe Marfan syndrome homozygous due to FBN1 missense mutation.
Databáze:	Complementary Index
Externí odkaz:	Zobrazit plný text záznamu Plný text