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Article

De novo variant in KIF26B is associated with pontocerebellar hypoplasia with infantile spinal muscular atrophy

27 Aug 2018

Abstract excerpt

KIF26B is a member of the kinesin superfamily with evolutionarily conserved functions in controlling aspects of embryogenesis, including the development of the nervous system, though its function is incompletely understood. We describe an infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. We performed...

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PMID: 30151950
DOI: 10.1002/ajmg.a.40493

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