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Article

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

Genomics - 1 Feb 2008

Griggs Bradley L, Ladd Sydney, Saul Robert A, DuPont Barbara R, Srivastava Anand K

Abstract excerpt

We have identified disruptions in the dedicator of cytokinesis 8 gene, DOCK8, in two unrelated patients with mental retardation (MR). 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 retardation and ectodermal dysplasia and a balanced translocation, t(X;9) (q13.1;p24), we mapped the 9p24 breakpoint to...

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Topics

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Share to Chromosome Deletion
Share to Chromosomes, Human, Pair 9

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Guanine Nucleotide Exchange Factors

Share to In Situ Hybridization, Fluorescence

Share to Intellectual Disability

Share to Mutation

Share to Translocation, Genetic

Source

Open in PubMed Open full text

Identifiers

PMID: 18060736
DOI: 10.1016/j.ygeno.2007.10.011
PMCID: PMC2245991

Genes

DOCK8

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Dedicator of cytokinesis 8 is disrupted in two patients with mental retardation and developmental disabilities.PMID 18060736Read ↗

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