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Identification of genetic etiology of CAMRQ2

We aimed to identify genetic etiology of cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ). Targeted sequencing of the entire CAMRQ2 locus, 7.1 Mb interval on chromosome 17p13, in three affected individuals and two obligate carriers uncovered the mutation associated with CAMRQ2.

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Dataset ID Description Technology Samples
EGAD00010000130 Illumina Illumina 300 Duo V2 - Bead Studio 2
Publications Citations
Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.
Genome Res 21: 2011 1995-2003