A de novo FBN1 missense variant associated with a severe phenotype of early onset Marfan syndrome
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Publisher
Elsevier BV
Reference21 articles.
1. FBN1-related Marfan Syndrome;Dietz,1993
2. Prevalence, incidence, and age at diagnosis in Marfan syndrome;Groth;Orphanet. J. Rare Dis.,2015
3. Neonatal Marfan syndrome with congenital arachnodactyly, flexion contractures, and severe cardiac valve insufficiency;Buntinx;J. Med. Genet.,1991
4. A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum;Peng;BMC Pediatr.,2016
5. A case of neonatal Marfan Syndrome: a management conundrum and the role of a multidisciplinary team;Carande;Case Rep. Pediatr.,2017
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