Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes
Author:
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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1. Novel molecular mechanism in Malan syndrome uncovered through genome sequencing reanalysis, exon‐level Array, and RNA sequencing;American Journal of Medical Genetics Part A;2024-01-02
2. A rare cause of intellectual disability: Novel mutations of NFIX gene in two patients with clinical features of Marshall–Smith syndrome and Malan syndrome;International Journal of Developmental Neuroscience;2023-06-19
3. Erythroid lineage chromatin accessibility maps facilitate identification and validation of NFIX as a fetal hemoglobin repressor;Communications Biology;2023-06-14
4. A Mouse Model with a Frameshift Mutation in the Nuclear Factor I/X (NFIX) Gene Has Phenotypic Features ofMarshall‐SmithSyndrome;JBMR Plus;2023-03-30
5. Further characterization of NFIB ‐associated phenotypes: Report of two new individuals;American Journal of Medical Genetics Part A;2022-11-02
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