Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome
Author:
Funder
Basic and Applied Basic Research Foundation of Guangdong Province
Publisher
Springer Science and Business Media LLC
Link
https://link.springer.com/content/pdf/10.1007/s00467-024-06356-y.pdf
Reference64 articles.
1. Loi M (2006) Lowe syndrome. Orphanet J Rare Dis 1:16. https://doi.org/10.1186/1750-1172-1-16
2. Lowe CU, Terrey M, MacLachlan EA (1952) Organic-aciduria, decreased renal ammonia production, hydrophthalmos, and mental retardation; a clinical entity. AMA Am J Dis Child 83:164–184. https://doi.org/10.1001/archpedi.1952.02040060030004
3. Recker F, Zaniew M, Böckenhauer D, Miglietti N, Bökenkamp A, Moczulska A, Rogowska-Kalisz A, Laube G, Said-Conti V, Kasap-Demir B, Niemirska A, Litwin M, Siteń G, Chrzanowska KH, Krajewska-Walasek M, Sethi SK, Tasic V, Anglani F, Addis M, Wasilewska A, Szczepańska M, Pawlaczyk K, Sikora P, Ludwig M (2015) Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome. Pediatr Nephrol 30:931–943. https://doi.org/10.1007/s00467-014-3013-2
4. Charnas L, Bernar J, Pezeshkpour GH, Dalakas M, Harper GS, Gahl WA (1988) MRI findings and peripheral neuropathy in Lowe’s syndrome. Neuropediatrics 19:7–9. https://doi.org/10.1055/s-2008-1052393
5. Demmer LA, Wippold FJ 2nd, Dowton SB (1992) Periventricular white matter cystic lesions in Lowe (oculocerebrorenal) syndrome. A new MR finding. Pediatr Radiol 22:76–77. https://doi.org/10.1007/BF02011619
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