Associated Papers
Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.
Quintana K et al.
American Journal of Medical Genetics. Part A, 2026
Bioinformatic analysis of human ZPR1 gene pathogenic exome mutations.
Abok JI et al.
Biorxiv : the Preprint Server for Biology, 2024
A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys.
Ito YA et al.
Clinical Genetics, 2018
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