12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

doi:10.1038/ejhg.2012.116

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Article

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech.

European journal of human genetics : EJHG - 1 Jan 2013

Thevenon Julien, Callier Patrick, Andrieux Joris, Delobel Bruno, David Albert, Sukno Sylvie, Minot Delphine, Mosca Anne Laure, Marle Nathalie, Sanlaville Damien, Bonnet Marlène, Masurel-Paulet Alice, Levy Fabienne, Gaunt Lorraine, Farrell Sandra, Le Caignec Cédric, Toutain Annick, Carmignac Virginie, Mugneret Francine, Clayton-Smith Jill, Thauvin-Robinet Christel, Faivre Laurence

Abstract excerpt

Speech sound disorders are heterogeneous conditions, and sporadic and familial cases have been described. However, monogenic inheritance explains only a small proportion of such disorders, in particular in cases with childhood apraxia of speech (CAS). Deletions of <5 Mb involving the 12p13.33 locus is one of the least commonly deleted subtelomeric regions. Only four patients have been reported with such a...

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PMID: 22713806
DOI: 10.1038/ejhg.2012.116
PMCID: PMC3522191

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ERC1

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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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