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Published in 2021 at "Neurology India"
DOI: 10.4103/0028-3886.333478
Abstract: 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…
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Keywords:
mboat;
globus;
rare cause;
dentate ... See more keywords