Opera Medica et Physiologica

S.A. Klyushnikov

The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder


PDF icon 10.20388omp2015.00s1.003.pdf296.59 KB


To identified genetic cause of congenital hypoplasia cerebellum in two families with different syndromes high- throughput sequencing analysis was performed. X-linked non-progressive ataxia in first family from Mongolian ancestry was caused by genetic defects in ABCB7 gene and modifying by ATP7A gene.

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