The oculocerebrorenal syndrome of Lowe: an update

Pediatric Nephrology

Volumn 31, Issue 12, 2016, Pages 2201-2212

  Bökenkamp, Arend ^a   Ludwig, Michael ^b  

^a VU UNIVERSITY MEDICAL CENTER   (Netherlands)

^b UNIVERSITY OF BONN   (Germany)

Author keywords

Cognitive and behavioral impairment; Congenital cataract; Inositol polyphosphate 5 phosphatase; OCRL gene; Oculocerebrorenal syndrome; Proximal tubulopathy; Renal Fanconi syndrome

Indexed keywords

SUCCIMER TC 99M; SYNAPTOJANIN;

ACIDOSIS; AMINOACIDURIA; BEHAVIOR DISORDER; BLEEDING DISORDER; BUPHTHALMOS; CATARACT; CLINICAL FEATURE; CRYPTORCHISM; ENZYMURIA; GENE; GENE MUTATION; GENETIC COUNSELING; GENOTYPE PHENOTYPE CORRELATION; GLAUCOMA; GLUCOSURIA; GROWTH DISORDER; HEMOSTASIS; HETEROZYGOTE; HUMAN; HYPERCALCIURIA; INTELLECTUAL IMPAIRMENT; KIDNEY CALCIFICATION; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; LOWE SYNDROME; MUSCLE HYPOTONIA; MUSCULOSKELETAL DISEASE; NONHUMAN; OCRL GENE; PHOSPHATURIA; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; PROTEINURIA; REVIEW; SEIZURE; SEX DIFFERENCE; SKIN DEFECT; TOOTH MALFORMATION; ADOLESCENT; CHILD; CHROMOSOME 11; CHROMOSOME DELETION; GENETICS; INFANT; MOLECULAR BIOLOGY; MUTATION; NEWBORN; PATHOLOGY; PRESCHOOL CHILD; WAGR SYNDROME;

ADOLESCENT; CHILD; CHILD, PRESCHOOL; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; HUMANS; INFANT; INFANT, NEWBORN; MOLECULAR BIOLOGY; MUTATION; OCULOCEREBRORENAL SYNDROME; WAGR SYNDROME;

EID: 84961661655     PISSN: 0931041X     EISSN: 1432198X     Source Type: Journal    
DOI: 10.1007/s00467-016-3343-3     Document Type: Review

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