Article
A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation.
Neurology India - 1 Jan 2000
Ozpinar Esra, Kaytan Ismail, Topcu Yasemin, Kılıc Betul, Aydin Kursad
Abstract excerpt
Mutations in mammalian membrane-bound O-acyltransferase domain-containing (MBOAT) 7 gene are a rare cause for intellectual disability, developmental delay, autistic findings, epilepsy, truncal hypotonia with appendicular hypertonia, and below-average head sizes. Pathogenic variants in MBOAT7 gene show these nonspecific clinical features that are seen in many other neurometabolic diseases. Therefore, specific...
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