Childhood Apraxia of Speech (CAS) in two patients with 16p11.2 microdeletion syndrome

We report clinical findings that extend the phenotype of the ∼550 kb 16p11.2 microdeletion syndrome to include a rare, severe, and persistent pediatric speech sound disorder termed Childhood Apraxia of Speech (CAS). CAS is the speech disorder identified in a multigenerational pedigree (‘KE') in...

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Hlavní autoři: Raca, Gordana, Baas, Becky S, Kirmani, Salman, Laffin, Jennifer J, Jackson, Craig A, Strand, Edythe A, Jakielski, Kathy J, Shriberg, Lawrence D
Médium: Artigo
Jazyk:Inglês
Vydáno: Nature Publishing Group 2013
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On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3598318/
https://ncbi.nlm.nih.gov/pubmed/22909774
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.165
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