Clinical utility gene card for: Lowe syndrome


1.5. Mutational spectrum The OCRL gene was identified by positional cloning1 and its genomic structure, comprising 24 exons occupying 52 kb, has been elucidated.2 Since then, more than 200 Lowe syndrome patients with OCRL defects have been identified, which were extensively reviewed by Hichri et al.3 Disease-causing variants are scattered throughout the… (More)
DOI: 10.1038/ejhg.2014.177

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