Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene-Reference-Cited by-同舟云学术

Central nervous system abnormalities in two cases with neonatal Marfan syndrome with novel mutations in the fibrillin-1 gene

Published:2010-08-20 Issue:9 Volume:152A Page:2409-2412
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Barnett Christopher P.,Wilson Gregory J.,Chiasson David A.,Gross Gil J.,Hinek Aleksander,Hawkins Cynthia,Chitayat David

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Reference11 articles.

1. Novel exon skipping mutation in the fibrillin-1 gene: Two ‘hot spots’ for the neonatal Marfan syndrome;Booms;Clin Genet,1999

2. Mutations in the human gene for fibrillin-1 (FBN1) in the Marfan syndrome and related disorders;Dietz;Hum Mol Genet,1995

3. Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: An international study;Faivre;Am J Med Genet,2007

4. Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN1 mutations;Faivre;Pediatrics,2009

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2. Assembly assay identifies a critical region of human fibrillin-1 required for 10–12 nm diameter microfibril biogenesis;PLOS ONE;2021-03-18

3. Perinatal diagnosis and management of early-onset Marfan syndrome: case report and systematic review;The Journal of Maternal-Fetal & Neonatal Medicine;2019-01-17

4. Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24–32;Heart and Vessels;2016-01-21

5. Infantile and Neonatal Marfan Syndrome;Diagnosis and Management of Marfan Syndrome;2016