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

@article{Thevenon201312p1333MI,
  title={12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech},
  author={Julien Thevenon and Patrick Callier and Joris Loup Andrieux and Bruno Delobel and Albert David and Sylvie Sukno and Delphine Minot and Laure Mosca Anne and Nathalie Marle and D. Sanlaville and Marl{\`e}ne Bonnet and Alice Masurel-Paulet and Fabienne Levy and Lorraine Gaunt and Sandra N Farrell and C{\'e}dric Le Caignec and Annick Toutain and Virginie Carmignac and Francine Mugneret and Jill Clayton-Smith and Christel Thauvin-Robinet and Laurence Faivre},
  journal={European Journal of Human Genetics},
  year={2013},
  volume={21},
  pages={82-88}
}
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 deletion diagnosed with fluorescence in situ hybridisation telomere analysis or array CGH… CONTINUE READING
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