Marfanoid–progeroid–lipodystrophy syndrome: a newly recognized fibrillinopathy

We review six previous reports between 2000 and 2014 of seven unrelated patients with mutations in the FBN1 gene affecting function. All mutations occurred in exon 64 of the FBN1 gene. A distinctive phenotype consisting of partial manifestations of Marfan syndrome, a progeroid facial appearance, and...

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Bibliographic Details
Published in:Eur J Hum Genet
Main Authors: Passarge, Eberhard, Robinson, Peter N, Graul-Neumann, Luitgard M
Format: Artigo
Language:Inglês
Published: Nature Publishing Group 2016
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Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC4989216/
https://ncbi.nlm.nih.gov/pubmed/26860060
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2016.6
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