Article

Multilocus Genetic Variants in a Child with Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated with CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

2025-09-09

Abstract excerpt

<title>Abstract</title> <p><bold>Background: </bold>Neuro-ichthyosis is a rare and heterogeneous group of disorders characterized by concurrent neurological dysfunction and ichthyotic skin changes. This report describes an unprecedented constellation of multilocus genetic abnormalities—homozygous CC2D2A variant, heterozygous ABCA12 and DOCK6 variants, and a 14q31.3–q32.11 deletion—in a child with pharmacoresistan...

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Literature Corpus work: e1b776f0-1399-5b65-a172-5a09e7dfe5a2
DOI: 10.21203/rs.3.rs-7375225/v1

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Multilocus Genetic Variants in a Child with Neuro-Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated with CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 DeletionDOI 10.21203/rs.3.rs-7375225/v1Read

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