Novel CLTC variants cause new brain and kidney phenotypes
Novel CLTC variants cause new brain and kidney phenotypes
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England: Nature Publishing Group
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Language
English
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England: Nature Publishing Group
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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 have been reported, although their phenotypes have not been fully elucidated. Here, we re...
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Novel CLTC variants cause new brain and kidney phenotypes
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TN_cdi_proquest_miscellaneous_2549207959
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_2549207959
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/s10038-021-00957-3
