Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

doi:10.1016/j.ajhg.2010.07.001

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Article

Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.

American journal of human genetics - 13 Aug 2010

Malan Valérie, Rajan Diana, Thomas Sophie, Shaw Adam C, Louis Dit Picard Hélène, Layet Valérie, Till Marianne, van Haeringen Arie, Mortier Geert, Nampoothiri Sheela, Puseljić Silvija, Legeai-Mallet Laurence, Carter Nigel P, Vekemans Michel, Munnich Arnold, Hennekam Raoul C, Colleaux Laurence, Cormier-Daire Valérie

Abstract excerpt

By using a combination of array comparative genomic hybridization and a candidate gene approach, we identified nuclear factor I/X (NFIX) deletions or nonsense mutation in three sporadic cases of a Sotos-like overgrowth syndrome with advanced bone age, macrocephaly, developmental delay, scoliosis, and unusual facies. Unlike the aforementioned human syndrome, Nfix-deficient mice are unable to gain weight and die in...

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PMID: 20673863
DOI: 10.1016/j.ajhg.2010.07.001
PMCID: PMC2917711

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.

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