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Article

TM4SF2 gene involvement reconsidered in an XLMR family after neuropsychological assessment.

American journal of medical genetics - 1 Nov 2002

Gomot Marie, Ronce Nathalie, Dessay Sabine, Zemni Ramzi, Ayrault Anne-Dominique, Moizard Marie-Pierre, Nivelon Annie, Gilgenkrantz Simone, Dourlens Julliette, Des Portes Vincent, Chelly Jamel, Moraine Claude

Abstract excerpt

The TM4SF2 gene (localized at Xp11.4 between the loci DXS564 and DXS556) has been found to be mutated in one MRX family. In order to define the corresponding behavioral phenotype, global IQ and specific cognitive skills were assessed in seven males and three females of this family, independent of subject status. Mental retardation (MR) was mild in three patients and moderate in three others. Despite the broad...

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PMID: 12376945
DOI: 10.1002/ajmg.10564

Genes

ALAS2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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