Opera Medica et Physiologica

S.A. Klyushnikov

The Identification of the Genetic Cause of the Cerebellar Hypoplasia Disorder

INTRODUCTION

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Abstract

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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