LRP2

Publications

Longoni M et al. Donnai-Barrow Syndrome. 2008 [updated 2018]. In: Adam MP, et al. GeneReviews. 1993-2019.  PMID: 20301732.

Anglani F et al. Hypercalciuria and nephrolithiasis: Expanding the renal phenotype of Donnai-Barrow syndrome. Clin Genet. 2018;94(1):187-188.  PMID: 29532936.

Khan AO et al. The distinct optic disk and peripapillary appearance in Donnai-Barrow syndrome. Ophthalmic Genet. 2018;39(3):321-324.  PMID: 29388841.

Willnow TE et al. Endocytic receptor LRP2/megalin-of holoprosencephaly and renal Fanconi syndrome. Pflugers Arch. 2017;469(7-8):907-916.  PMID: 28497274.

Christ A et al. LRP2, an auxiliary receptor that controls sonic hedgehog signaling in development and disease. Dev Dyn. 2016;245(5):569-79.  PMID: 26872844.

Dachy A et al. In-depth phenotyping of a Donnai-Barrow patient helps clarify proximal tubule dysfunction. Pediatr Nephrol. 2015;30(6):1027-31.  PMID: 25822460.

Ha S et al. A forward genetic screen in mice identifies mutants with abnormal cortical patterning. Cereb Cortex. 2015;25(1):167-79.  PMID: 23968836.

Schrauwen I et al. Broadening the phenotype of LRP2 mutations: a new mutation in LRP2 causes a predominantly ocular phenotype suggestive of Stickler syndrome. Clin Genet. 2014;86(3):282-6.  PMID: 23992033.

Storm T et al. Renal phenotypic investigations of megalin-deficient patients: novel insights into tubular proteinuria and albumin filtration. Nephrol Dial Transplant. 2013;28(3):585-91.  PMID:23048173.

Chinta S et al. Persistent pupillary membrane, strabismus, and optic nerve hypoplasia in Donnai-Barrow syndrome. J AAPOS. 2011;15(6):604-5.  PMID: 22153411.

Bruce IA et al. Cochlear implantation in Donnai-Barrow syndrome. Cochlear Implants Int. 2011;12(1):60-3.  PMID: 21756462

Shaheen IS et al. Focal segmental glomerulosclerosis in a female patient with Donnai-Barrow syndrome. Clin Dysmorphol. 2010;19(1):35-7.  PMID: 19952924.

Kantarci S et al. Donnai-Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy. Am J Med Genet A. 2008;146A(14):1842-7.  PMID: 18553518.

Kantarci S et al. Mutations in LRP2, which encodes the multiligand receptor megalin, cause Donnai-Barrow and facio-oculo-acoustico-renal syndromes. Nat Genet. 2007;39(8):957-9.  PMID: 17632512.

Patel N et al. Ocular manifestations of Donnai-Barrow syndrome. J Child Neurol. 2007;22(4):462-4.  PMID: 17621530.