Orphanet Journal of Rare Diseases, 2006 Lowe syndrome (the oculocerebrorenal syndrome of Lowe, OCRL) is a multisystem disorder characterised by anomalies affecting the eye, the nervous system and the kidney.
Loi Mario
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Lowe syndrome identified in the offspring of an oocyte donor who was an unknown carrier of a de novo mutation: a case report and review of the literature [PDF]
Journal of Medical Case Reports, 2019 Background Oculocerebrorenal syndrome of Lowe is an X-linked disorder with very low prevalence in the general population. The OCRL gene encodes the protein phosphatidylinositol 4,5-bisphosphate-5-phosphatase, a lipid phosphatase, located in the trans ...
P. Tatsi +6 more
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Lowe syndrome: a single center's experience in Korea [PDF]
Korean Journal of Pediatrics, 2014 PurposeLowe syndrome is a rare, X-linked recessive disorder caused by mutations in the OCRL gene. It involves multiple anatomic systems, particularly the eyes, central nervous system, and kidneys, and leads to profound growth failure and global ...
Hyun-Kyung Kim +6 more
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Barriers to care and the need for dental educational materials for the Lowe syndrome community: a survey of dentists [PDF]
PeerJBackground This study aimed to assess dentists’ experience in treating individuals with Lowe syndrome (LS), reasons they may be unable to provide dental care for individuals with LS, and perceptions of the need for educational materials tailored to the ...
Adam Lowenstein +6 more
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The Lowe syndrome protein OCRL1 is required for endocytosis in the zebrafish pronephric tubule. [PDF]
PLoS Genetics, 2015 Lowe syndrome and Dent-2 disease are caused by mutation of the inositol 5-phosphatase OCRL1. Despite our increased understanding of the cellular functions of OCRL1, the underlying basis for the renal tubulopathy seen in both human disorders, of which a ...
Francesca Oltrabella +7 more
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Whole‐genome sequencing revealed an interstitial deletion encompassing OCRL and SMARCA1 gene in a patient with Lowe syndrome [PDF]
Molecular Genetics & Genomic Medicine, 2019 Background Lowe syndrome is a rare X‑linked syndrome that is characterized by involvement of the eyes, central nervous system, and kidneys. The aim of the present study was to determine the molecular basis of four patients with congenital cataract ...
Bixia Zheng +8 more
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A 3D Renal Proximal Tubule on Chip Model Phenocopies Lowe Syndrome and Dent II Disease Tubulopathy [PDF]
International Journal of Molecular Sciences, 2021 Mate Ongenaert +2 more
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Temper outbursts in Lowe syndrome: Characteristics, sequence, environmental context and comparison to Prader–Willi syndrome [PDF]
Journal of Applied Research in Intellectual Disabilities, 2019 Christopher Oliver +2 more
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Genotype-Phenotype Correlation Reanalysis in 83 Chinese Cases with OCRL Mutations
Genetics Research, 2022 Background. Both Lowe syndrome and Dent-2 disease are caused by variants in the OCRL gene. However, the reason why patients with similar OCRL gene mutations presented with different phenotypes remains uncertain. Methods.
Lingxia Zhang +12 more
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Chronic renal failure revealing a Lowe’s syndrome. First case report from an Algerian family. [PDF]
Batna Journal of Medical Sciences, 2023 The oculocerebrorenal syndrome of Lowe is a rare X-linked multisystemic disorder the causative oculocerebrorenal syndrome of Lowe gene (OCRL) encodes the inositol polyphosphate 5-phosphatase OCRL-1.
Ghalia Khellaf +4 more
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