Genomics

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Cerebellar ataxia cases - samples


ABSTRACT: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) samples

PROVIDER: EGAD00010000130 | EGA |

REPOSITORIES: EGA

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Publications

Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred.

Gulsuner Suleyman S   Tekinay Ayse Begum AB   Doerschner Katja K   Boyaci Huseyin H   Bilguvar Kaya K   Unal Hilal H   Ors Aslihan A   Onat O Emre OE   Atalar Ergin E   Basak A Nazli AN   Topaloglu Haluk H   Kansu Tulay T   Tan Meliha M   Tan Uner U   Gunel Murat M   Ozcelik Tayfun T  

Genome research 20110901 12


The biological basis for the development of the cerebro-cerebellar structures required for posture and gait in humans is poorly understood. We investigated a large consanguineous family from Turkey exhibiting an extremely rare phenotype associated with quadrupedal locomotion, mental retardation, and cerebro-cerebellar hypoplasia, linked to a 7.1-Mb region of homozygosity on chromosome 17p13.1-13.3. Diffusion weighted imaging and fiber tractography of the patients' brains revealed morphological a  ...[more]

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