Literature DB >> 20803651

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

Christopher P Barnett1, Gregory J Wilson, David A Chiasson, Gil J Gross, Aleksander Hinek, Cynthia Hawkins, David Chitayat.   

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Year:  2010        PMID： 20803651     DOI： 10.1002/ajmg.a.33406

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  2 in total

Review 1.  Variable severity of cardiovascular phenotypes in patients with an early-onset form of Marfan syndrome harboring FBN1 mutations in exons 24-32.

Authors:  Jun Maeda; Kenjiro Kosaki; Junko Shiono; Kazuki Kouno; Ryo Aeba; Hiroyuki Yamagishi
Journal:  Heart Vessels       Date:  2016-01-21       Impact factor: 2.037

2.  Assembly assay identifies a critical region of human fibrillin-1 required for 10-12 nm diameter microfibril biogenesis.

Authors:  Sacha A Jensen; Ondine Atwa; Penny A Handford
Journal:  PLoS One       Date:  2021-03-18       Impact factor: 3.240
  2 in total

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