Article
Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.
Clinical genetics - 1 Jul 2026
Al-Azri Fakhriya, Al-Rashdi Maryam, Al-Murshedi Fathiya, Otaify Ghada A, Al-Jabry Tariq, Al-Kindi Adila, Halim Sobia Ahsan, Al-Harrasi Ahmed, Al-Maawali Almundher
Abstract excerpt
XPR1 encodes the only known phosphate exporter in human cells and regulates the export of inorganic phosphate (Pi). To date, heterozygous pathogenic variants have been reported to be associated with autosomal-dominant idiopathic basal ganglia calcification-6 (IBGC6; MIM: 616413). We collate clinical information on individuals with biallelic XPR1 variants and use in silico and cell-based studies to evaluate...
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