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Article

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

Pediatric research - 1 Nov 2015

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

Abstract excerpt

BACKGROUND: Only 15 point mutations in NFIX gene have been reported so far, nine of them cause the Marshall-Smith syndrome (MSS) and the remaining mutations lead to an overgrowth disorder with a less severe phenotype, defined as Sotos-like. METHODS: The clinical findings in three patients with MSS and two patients with a Sotos-like phenotype are presented. Analysis of the NFIX gene was performed both by...

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Identifiers

PMID: 26200704
DOI: 10.1038/pr.2015.135

Genes

NFIX

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Novel mutations of NFIX gene causing Marshall-Smith syndrome or Sotos-like syndrome: one gene, two phenotypes.PMID 26200704Read ↗

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