Genomics

Dataset Information

0

Homo sapiens


ABSTRACT: Genome wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome

ORGANISM(S): Homo sapiens  

PROVIDER: PRJNA186785 | ENA |

REPOSITORIES: ENA

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Publications

Genome-wide gene expression in a patient with 15q13.3 homozygous microdeletion syndrome.

Le Pichon Jean-Baptiste JB   Yu Shihui S   Kibiryeva Nataliya N   Graf William D WD   Bittel Douglas C DC  

European journal of human genetics : EJHG 20130130 10


We identified a novel homozygous 15q13.3 microdeletion in a young boy, with a complex neurodevelopmental disorder characterized by severe cerebral visual impairment with additional signs of congenital stationary night blindness, congenital hypotonia with areflexia, profound intellectual disability, and refractory epilepsy. The mechanisms by which the genes in the deleted region exert their effect are unclear. In this paper, we probed the role of downstream effects of the deletions as a contribut  ...[more]

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