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Publikováno v:
Frontiers in Pediatrics, Vol 12 (2024)
Joubert syndrome (JS) is a rare autosomal recessive neurodevelopmental condition characterized by congenital mid-hindbrain abnormalities and a variety of clinical manifestations. This article describes a case of Joubert syndrome type 21 with microcep
Externí odkaz:
https://doaj.org/article/fca2e8755f9b4b1f8069a451a5ba6318