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Characterization of 28 novel patients expands the mutational and phenotypic spectrum of Lowe syndrome

ADDIS, MARIA;
2015-01-01
2015
Cataract; CpG dinucleotides; Hyperacusis; Hyperosmia; OCRL; Oculocerebrorenal syndrome of Lowe; Thrombocytopenia; Adolescent; Cataract; Child; Child, Preschool; Chromosome Breakpoints; CpG Islands; DNA Mutational Analysis; Disease Progression; Europe; Female; Genetic Predisposition to Disease; Heredity; Heterozygote; Humans; Hyperacusis; India; Infant; Male; Oculocerebrorenal Syndrome; Pedigree; Phenotype; Phosphoric Monoester Hydrolases; Predictive Value of Tests; Prevalence; Renal Insufficiency, Chronic; Thrombocytopenia; Time Factors; Young Adult; Mutation; Nephrology; Pediatrics, Perinatology and Child Health
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/11584/136964
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