Congenital Alopecia, Hypoplastic Kidneys, Growth Restriction, Growth Hormone Resistance, and Liver Fibrosis: Confirmation of a New Syndrome Caused by Biallelic Variants in ZPR1.

Abstract excerpt

We report two female siblings, a 13-month-old and a newborn, with multiple anomalies including hypoplastic kidneys, severe growth restriction, facial dysmorphism, and alopecia, both found to be homozygous for the c.587 T>C variant in ZPR1. Their clinical features are strikingly similar to those previously reported in a patient who was homozygous for the same variant. Our report confirms that homozygosity for...

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