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pro vyhledávání: '"Julianne K Postma"'
Autor:
Julianne K. Postma, Jessica L. Zambonin, Ebtissal Khouj, Suad Alyamani, John M. Graham, Fowzan S. Alkuraya, Stephen Kundell, Melissa T. Carter
Publikováno v:
American Journal of Medical Genetics Part A. 188:3350-3357
Publikováno v:
American Journal of Medical Genetics Part A. 185:2507-2513
Neonatal Marfan syndrome is a severe, early onset presentation of pathogenic variants in FBN1. Because of the significant cardiac involvement and early mortality, nearly all reported cases have been de novo, and the disorder has not been documented t