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Fatal congenital copper transport defect caused by a homozygous likely pathogenic variant of SLC31A1

23 Dec 2022

Abstract excerpt

Known hereditary human diseases featuring impaired copper trafficking across cellular membranes involve ATP7A (Menkes disease, occipital horn disease, X-linked spinal muscular atrophy type 3) and ATP7B (Wilson disease). Herein, we report a newborn infant of consanguineous parents with a homozygous pathogenic variant in a highly conserved sequence of SLC31A1, coding for the copper influx transporter 1, CTR1. This...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 36562171
DOI: 10.1111/cge.14289

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