A peculiar mutation in the DNA-binding/dimerization domain of NFIX causes Sotos-like overgrowth syndrome: A new case
Author:
Publisher
Elsevier BV
Subject
Genetics,General Medicine
Reference13 articles.
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5. 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
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1. Natural history in Malan syndrome: survey of 28 adults and literature review;Orphanet Journal of Rare Diseases;2024-07-29
2. 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
3. Behavioral profiling in children and adolescents with Malan syndrome;Frontiers in Child and Adolescent Psychiatry;2023-02-21
4. Pathogenic variant in NFIX gene affecting three sisters due to paternal mosaicism;American Journal of Medical Genetics Part A;2020-09-18
5. Investigating cortical features of Sotos syndrome using mice heterozygous for Nsd1;Genes, Brain and Behavior;2020-01-14
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