Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes-Reference-Cited by-同舟云学术

Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes

Published:2015-07-22 Issue:5 Volume:78 Page:533-539
ISSN:0031-3998
Container-title:Pediatric Research
language:en
Short-container-title:Pediatr Res

Author:

Martinez Francisco^ORCID,Marín-Reina Purificación,Sanchis-Calvo Amparo,Perez-Aytés Antonio,Oltra Silvestre,Roselló Mónica,Mayo Sonia,Monfort Sandra,Pantoja Jorge,Orellana Carmen

Publisher

Springer Science and Business Media LLC

Subject

Pediatrics, Perinatology, and Child Health

Link

http://www.nature.com/articles/pr2015135.pdf

Reference10 articles.

1. Adam MP, Hennekam RC, Keppen LD, et al. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities. Am J Med Genet A 2005;137:117–24.

2. Malan V, Rajan D, Thomas S, et al. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome. Am J Hum Genet 2010;87:189–98.

3. Yoneda Y, Saitsu H, Touyama M, et al. Missense mutations in the DNA-binding/dimerization domain of NFIX cause Sotos-like features. J Hum Genet 2012;57:207–11.

4. Priolo M, Grosso E, Mammì C, et al. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case. Gene 2012;511:103–5.

5. Klaassens M, Morrogh D, Rosser EM, et al. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature. Eur J Hum Genet 2015;23:610–5.

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