Novel CLTC variants cause new brain and kidney phenotypes.
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DOI: 10.1038/s10038-021-00957-3
Abstract: Heterozygous variants in CLTC, which encode the clathrin heavy chain protein, cause neurodevelopmental delay of varying severity, and often accompanied by dysmorphic features, seizures, hypotonia, and ataxia. To date, 28 affected individuals with CLTC variants… read more here.
Keywords: cause new; variants cause; novel cltc; cltc variants ... See more keywords