Article

CLINICAL AND MOLECULAR CHARACTERISATION OF SLC31A1-RELATED NEURODEVELOPMENTAL DISORDER.

2024-11-29

Abstract excerpt

Copper is indispensable for various metabolic processes, notably mitochondrial respiration. In humans, copper homeostasis hinges on transporters such as copper transporter 1 (CTR1), encoded by the SLC31A1 gene. Recently, bi-allelic mutations in SLC31A1 have been associated with a new neurodevelopmental disorder. This study presents clinical, genetic, and biochemical findings from 13 new cases across 10 families wo...

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Literature Corpus work: 813474ed-245c-52ac-85a4-f669c523f15c
DOI: 10.1101/2024.11.27.24317634

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