A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation
A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation
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Publisher
Mumbai: Wolters Kluwer India Pvt. Ltd
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Language
English
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Publisher
Mumbai: Wolters Kluwer India Pvt. Ltd
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Contents
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 se...
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Full title
A Rare Cause of Globus Pallidus and Dentate Nucleus Hyperintensity in Childhood: MBOAT Mutation
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TN_cdi_proquest_journals_2614565875
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_journals_2614565875
Other Identifiers
ISSN
0028-3886
E-ISSN
1998-4022
DOI
10.4103/0028-3886.333478
