De Novo Heterozygous FBN1 Mutations in the Extreme C-Terminal Region Cause Progeroid Fibrillinopathy

AMERICAN JOURNAL OF MEDICAL GENETICS PART A

WILEY-BLACKWELL

1. NCRR NIH HHS [M01 RR000633, UL1 RR024982, UL1-RR-024982, M01-RR00633] Funding Source: Medline
2. NIDDK NIH HHS [R01 DK054387, R01-DK54387] Funding Source: Medline