Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Isabelle Adant follows up on a recent review on ATP7A with the case of a neonate presenting with occipital horn syndrome. Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant Isabelle Adant, et al https://doi.org/10.1002/jimd.12621

Episode metadata supplied by the publisher feed · Published Jun 30, 2023

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Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant

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