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