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Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities

We have identified disruptions of the dedicator of cytokinesis 8 gene, DOCK8, in two unrelated patients with mental retardation. In one patient, a male with MR and no speech, we mapped a genomic deletion of approximately 230 kb in subtelomeric 9p. In the second patient, a female with mental retardat...

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Detalles Bibliográficos
Main Authors: Griggs, Bradley L, Ladd, Sydney, Saul, Robert A, DuPont, Barbara R, Srivastava, Anand K
Formato: Artigo
Idioma:Inglês
Publicado: 2007
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC2245991/
https://ncbi.nlm.nih.gov/pubmed/18060736
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ygeno.2007.10.011
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