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


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2017-06-01

AUTHORS

Tsukasa Oshima, Hironori Hara, Norifumi Takeda, Eriko Hasumi, Yukiko Kuroda, Go Taniguchi, Ryo Inuzuka, Kan Nawata, Hiroyuki Morita, Issei Komuro

ABSTRACT

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 developed early-onset thoracic aortic aneurysm and dissection, which was a rare complication but deserves particular attention in relatively long-lived patients with Sotos-like phenotypes. More... »

PAGES

17022

Journal

TITLE

Human Genome Variation

ISSUE

N/A

VOLUME

4

Author Affiliations

Identifiers

URI

http://scigraph.springernature.com/pub.10.1038/hgv.2017.22

DOI

http://dx.doi.org/10.1038/hgv.2017.22

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1085737607

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/28584646


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