Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

doi:10.1016/j.ejpn.2016.12.005

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Article

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 May 2017

Giorgio Elisa, Brussino Alessandro, Biamino Elisa, Belligni Elga Fabia, Bruselles Alessandro, Ciolfi Andrea, Caputo Viviana, Pizzi Simone, Calcia Alessandro, Di Gregorio Eleonora, Cavalieri Simona, Mancini Cecilia, Pozzi Elisa, Ferrero Marta, Riberi Evelise, Borelli Iolanda, Amoroso Antonio, Ferrero Giovanni Battista, Tartaglia Marco, Brusco Alfredo

Abstract excerpt

BACKGROUND: More than 100 X-linked intellectual disability (X-LID) genes have been identified to be involved in 10-15% of intellectual disability (ID). METHOD: To identify novel possible candidates, we selected 18 families with a male proband affected by isolated or syndromic ID. Pedigree and/or clinical presentation suggested an X-LID disorder. After exclusion of known genetic diseases, we identified seven cases...

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Identifiers

PMID: 28027854
DOI: 10.1016/j.ejpn.2016.12.005

Genes

ATRX
DMD
MECP2

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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