NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series-Reference-Cited by-同舟云学术

NFIX mutations affecting the DNA-binding domain cause a peculiar overgrowth syndrome (Malan syndrome): A new patients series

Published:2015-09 Issue:9 Volume:58 Page:488-491
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Gurrieri Fiorella,Cavaliere Maria Luigia^ORCID,Wischmeijer Anita,Mammì Corrado,Neri Giovanni,Pisanti Maria Antonietta,Rodella Giulia,Laganà Carmelo,Priolo Manuela

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

1. Marshall-Smith syndrome: natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities;Adam;Am. J. Med. Genet. A,2005

2. Malan syndrome: Sotos-like overgrowth with de novo NFIX sequence variants and deletions in six new patients and a review of the literature;Klaassens;Eur. J. Hum. Genet.,2014

3. A clinical study of Sotos syndrome patients with review of the literature;Leventopoulos;Pediatr. Neurol.,2009

4. Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome;Malan;Am. J. Hum. Genet.,2010

5. A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: a new case;Priolo;Gene,2012

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