P496 X- Linked Infantile Spinal Muscular Atrophy (Smax2) Caused by Novel C.1681g>a Substitution in the Uba1 Gene, Expanding the Phenotype
doi 10.1136/archdischild-2019-epa.832
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Date
June 1, 2019
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BMJ Publishing Group Ltd and Royal College of Paediatrics and Child Health