A novel mutation of NFIX causes Sotos-like syndrome (Malan syndrome) complicated with thoracic aortic aneurysm and dissection

Malan syndrome has recently been characterized to present Sotos-like phenotypes, such as intellectual disability and macrocephaly, with mutations in the NFIX gene. Herein, we report a 38-year-old patient with a novel single adenine insertion mutation in exon 2 of the NFIX gene (c.290_291insA). He de...

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Bibliografische gegevens
Gepubliceerd in:Hum Genome Var
Hoofdauteurs: Oshima, Tsukasa, Hara, Hironori, Takeda, Norifumi, Hasumi, Eriko, Kuroda, Yukiko, Taniguchi, Go, Inuzuka, Ryo, Nawata, Kan, Morita, Hiroyuki, Komuro, Issei
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: Nature Publishing Group 2017
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Data Report
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5451486/
https://ncbi.nlm.nih.gov/pubmed/28584646
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/hgv.2017.22
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