Congenital valvular defects associated with deleterious mutations in thePLD1gene-Reference-Cited by-同舟云学术

Congenital valvular defects associated with deleterious mutations in thePLD1gene

Published:2016-10-31 Issue:4 Volume:54 Page:278-286
ISSN:0022-2593
Container-title:Journal of Medical Genetics
language:en
Short-container-title:J Med Genet

Author:

Ta-Shma Asaf,Zhang Kai,Salimova Ekaterina,Zernecke Alma,Sieiro-Mosti Daniel,Stegner David,Furtado Milena,Shaag Avraham,Perles Zeev,Nieswandt Bernhard,Rein Azaria J J T,Rosenthal Nadia,Neiman Aaron M,Elpeleg Orly

Publisher

BMJ

Subject

Genetics (clinical),Genetics

Reference34 articles.

1. Congenital heart defects in Europe: prevalence and perinatal mortality, 2000 to 2005;Dolk;Circulation,2011

2. Influence of Morphology and Initial Surgical Strategy on Survival of Infants With Tricuspid Atresia;Alsoufi;Ann Thorac Surg,2015

3. Marfan syndrome caused by a recurrent de novo missense mutation in the fibrillin gene;Dietz;Nature,1991

4. Heterozygous TGFBR2 mutations in Marfan syndrome;Mizuguchi;Nat Genet,2004

5. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome;Yamamoto;J Med Genet,2015

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