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Article

Array-CGH Analysis Suggests Genetic Heterogeneity in Rhombencephalosynapsis

1 Jan 2013

Abstract excerpt

Rhombencephalosynapsis is an uncommon, but increasingly recognized, cerebellar malformation defined as vermian agenesis with fusion of the hemispheres. The embryologic and genetic mechanisms involved are still unknown, and to date, no animal models are available. In the present study, we used Agilent oligonucleotide arrays in a large series of 57 affected patients to detect candidate genes. Four different...

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Share to Fetal and Pediatric Neurological Disorders
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PMID: 24167461
DOI: 10.1159/000353878

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