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Article

Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability

1 Jun 2012

Abstract excerpt

BACKGROUND: Non-progressive congenital ataxias (NPCA) with or without intellectual disability (ID) are clinically and genetically heterogeneous conditions. As a consequence, the identification of the genes responsible for these phenotypes remained limited. OBJECTIVE: Identification of a new gene responsible for NPCA and ID. Methods Following the discovery of three familial or sporadic cases with an intragenic...

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PMID: 22693284
DOI: 10.1136/jmedgenet-2012-100856

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