Joubert syndrome with intellectual disability: the first documented case from the United Arab Emirates

Abstract Joubert syndrome (JS) is a rare autosomal recessive ciliopathy with a prevalence of approximately 1 in 80,000 to 100,000 live births worldwide. It is characterized by a range of systemic and neurological abnormalities, with the agenesis of the cerebellar vermis being a key feature, often id...

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Detaylı Bibliyografya
Asıl Yazarlar:	Joman Salem Alshereida, Syed Ali Bokhari, Madhusudan Deepak Thalitaya
Materyal Türü:	Artigo
Dil:	Inglês
Baskı/Yayın Bilgisi:	SpringerOpen 2026-01-01
Seri Bilgileri:	Middle East Current Psychiatry
Konular:	Joubert syndrome Intellectual disability Molar tooth sign United arab emirates Ciliopathy Cerebellar cognitive affective syndrome
Online Erişim:	https://doi.org/10.1186/s43045-026-00616-3
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Joubert syndrome with intellectual disability: the first documented case from the United Arab Emirates

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