Konu "Joubert Syndrome" için Tıp Fakültesi listeleme
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Clinical and genetic spectrum from a prototype of ciliopathy: Joubert syndrome
(Elsevier B.V., 2023)Objective: Joubert syndrome is a neurodevelopmental disorder with a distinctive hindbrain malformation called molar tooth sign, causing motor and cognitive impairments. More than 40 genes have been associated with Joubert ...