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DYNC1H1de novo mutation, spinal muscular atrophy and attention problems

A L Fernández Perrone1, P Moreno Fernández2, S Álvarez3

  • 1Departamento de Neuropediatría, Hospital Universitario Quirónsalud, Madrid, España.

Neurologia
|September 14, 2021
PubMed
Abstract

No abstract available in PubMed .

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