Donnai-Barrow Syndrome Latest Advances
Find the Latest Research About Donnai-Barrow Syndrome
Last Updated: 04/28/2026
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Found 48 publications
A review of the genetics and clinical manifestations of Donnai-Barrow syndrome.
Journal: Ophthalmic genetics
Published: February 18, 2026
Bilateral giant retinal tear detachments in an infant with Donnai-Barrow syndrome: A case report and review of literature.
Journal: Retinal cases & brief reports
Published: February 28, 2025
Cryo-EM structures elucidate the multiligand receptor nature of megalin.
Journal: Proceedings of the National Academy of Sciences of the United States of America
Published: May 21, 2024
Spastic Paraparesis in Donnai-Barrow Syndrome: A Rare Case Report from India.
Journal: Annals of Indian Academy of Neurology
Published: October 31, 2023
The structure of megalin: shedding new light on receptor-mediated endocytosis.
Journal: Kidney international
Published: May 09, 2023
Behavioral Phenotype, Electroclinical Features, and Treatment Options in Twins with Lrp2 Candidate Variants (Donnay-Barrow/Foar Syndrome).
Journal: Case reports in genetics
Published: May 03, 2023
From pollakiuria to Donnai-Barrow syndrome diagnosis in pediatric age.
Journal: Clinical genetics
Published: April 23, 2023
Two novel variations in LRP2 cause Donnai-Barrow syndrome in a Chinese family with severe early-onset high myopia.
Journal: Frontiers in genetics
Published: November 24, 2022
Low molecular weight proteinuria, congenital myopia and hearing loss in a 10-year-old boy: Answers.
Journal: Pediatric nephrology (Berlin, Germany)
Published: November 22, 2022
Myopia control in Mendelian forms of myopia.
Journal: Ophthalmic & physiological optics : the journal of the British College of Ophthalmic Opticians (Optometrists)
Published: October 14, 2022
Proprotein convertase subtilisin/kexin type 9 targets megalin in the kidney proximal tubule and aggravates proteinuria in nephrotic syndrome.
Journal: Kidney international
Published: October 06, 2022
Variants of LRP2, encoding a multifunctional cell-surface endocytic receptor, associated with hearing loss and retinal dystrophy.
Journal: Clinical genetics
Published: October 04, 2022
Last Updated: 04/28/2026