A review of the genetics and clinical manifestations of Donnai-Barrow syndrome.

Abstract excerpt

Donnai‑Barrow syndrome (DBS) is an ultra-rare autosomal recessive disorder with fewer than 100 reported cases. Affected individuals have biallelic LRP2 (megalin) loss‑of‑function variants and varying clinical features that can include craniofacial anomalies, sensorineural hearing loss, renal tubular dysfunction, and distinctive ocular features. This article reviews the genetic and developmental basis of the...

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