Lowe syndrome/Dent-2 disease: A comprehensive review of known and novel aspects
Author:
Affiliation:
1. Department of Clinical Chemistry and Clinical Pharmacology, University of Bonn, Bonn, Germany
2. Institute of Human Genetics, University of Bonn, Bonn, Germany
Publisher
IOS Press
Subject
Genetics(clinical),Pediatrics, Perinatology, and Child Health
Cited by 23 articles. 订阅此论文施引文献 订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献
1. Atypical phenotypes and novel OCRL variations in southern Chinese patients with Lowe syndrome;Pediatric Nephrology;2024-04-08
2. Multiple odontogenic keratocysts in a patient with Lowe syndrome: a first case report and literature review;Oral Surgery, Oral Medicine, Oral Pathology and Oral Radiology;2023-12
3. Atypical phenotypes and novel OCRL variations in Southern Chinese patients with Lowe syndrome;2023-06-27
4. Heterogeneity in Lowe Syndrome: Mutations Affecting the Phosphatase Domain of OCRL1 Differ in Impact on Enzymatic Activity and Severity of Cellular Phenotypes;Biomolecules;2023-03-29
5. Multiple Perianal Epidermal Cysts Found in a Case of Lowe Syndrome: A Case Report and Review of the Literature;American Journal of Case Reports;2023-02-20
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