Article

Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsy

2023-02-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background</bold> Variations in the <italic>TRAPPC12</italic>present many symptoms, including microcephaly, agenesis of corpus callosum, cerebellar atrophy, and epilepsy. These features indicate a broad range of mortality and morbidity. Identifying a variation with functional consequences provides an accurate diagnosis and proper counseling for the family. Herein, we describe the...

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Literature Corpus work: a664e207-caae-5c82-805d-ab8d5376c543
DOI: 10.21203/rs.3.rs-2552844/v1

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Functional Characterization of a missense mutation in the TRAPPC12 gene presenting with progressive encephalopathy with brain atrophy and spasticity phenotype without microcephaly and epilepsyDOI 10.21203/rs.3.rs-2552844/v1Read

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