20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

doi:10.1038/ejhg.2013.243

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Article

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition.

European journal of human genetics : EJHG - 1 Jun 2014

Piton Amélie, Poquet Hélène, Redin Claire, Masurel Alice, Lauer Julia, Muller Jean, Thevenon Julien, Herenger Yvan, Chancenotte Sophie, Bonnet Marlène, Pinoit Jean-Michel, Huet Frédéric, Thauvin-Robinet Christel, Jaeger Anne-Sophie, Le Gras Stéphanie, Jost Bernard, Gérard Bénédicte, Peoc'h Katell, Launay Jean-Marie, Faivre Laurence, Mandel Jean-Louis

Abstract excerpt

Intellectual disability (ID) is characterized by an extraordinary genetic heterogeneity, with >250 genes that have been implicated in monogenic forms of ID. Because this complexity precluded systematic testing for mutations and because clinical features are often non-specific, for some of these genes only few cases or families have been unambiguously documented. It is the case of the X-linked gene encoding...

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Identifiers

PMID: 24169519
DOI: 10.1038/ejhg.2013.243
PMCID: PMC4023218

Genes

MAOA

Variants

Provenance

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Source receipt: pubmed, retrieved 7 Sept 2026.

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