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Shortcast: Neonatal presentation of occipital horn syndrome caused by a ATP7A missense variant
Manage episode 367519847 series 3001064
Konten disediakan oleh JIMD Podcasts and Journal of Inherited Metabolic Disease. Semua konten podcast termasuk episode, grafik, dan deskripsi podcast diunggah dan disediakan langsung oleh JIMD Podcasts and Journal of Inherited Metabolic Disease atau mitra platform podcast mereka. Jika Anda yakin seseorang menggunakan karya berhak cipta Anda tanpa izin, Anda dapat mengikuti proses yang diuraikan di sini https://id.player.fm/legal.
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
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