A novel and de novo deletion in the OCRL1 gene associated with a severe form of Lowe syndrome

International Urology and Nephrology

Volumn 45, Issue 6, 2013, Pages 1767-1771

  Peces, Ramón ^a   Peces, Carlos ^b   De Sousa, Erika ^a   Vega, Cristina ^a   Selgas, Rafael ^a   Nevado, Julián ^c  

^a HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^b SESCAM   (Spain)

^c CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

Author keywords

Cataracts; Exonic deletion; Low molecular weight proteinuria; Mental retardation; Proximal tubulopathy

Indexed keywords

ALPHA 1 MICROGLOBULIN; AMILORIDE PLUS HYDROCHLOROTHIAZIDE; ASPARTATE AMINOTRANSFERASE; CREATINE KINASE; GENOMIC DNA; LACTATE DEHYDROGENASE; POTASSIUM CHLORIDE; SODIUM CHLORIDE; SODIUM DIHYDROGEN PHOSPHATE; VALPROIC ACID;

ADOLESCENT; ADULT; AMINOACIDURIA; ARTICLE; BONE DEMINERALIZATION; BRAIN ATROPHY; BRAIN VENTRICLE DILATATION; CASE REPORT; CHILD; COGNITIVE DEFECT; CONGENITAL CATARACT; CONTROLLED STUDY; EXON; GENE; GENE DELETION; GROWTH RETARDATION; HIP DISLOCATION; HUMAN; HYPOPHOSPHATEMIA; INFANT; KIDNEY CALCIFICATION; KIDNEY COLIC; KIDNEY FAILURE; KIDNEY TUBULE DISORDER; LOWE SYNDROME; MALE; MUSCLE HYPOTONIA; MUTATIONAL ANALYSIS; NEPHROLITHIASIS; OCRL1 GENE; PRESCHOOL CHILD; PROTEINURIA; PSYCHOMOTOR DISORDER; RICKETS; SALT WASTING; SCHOOL CHILD; SCOLIOSIS; SEIZURE; SHORT STATURE; TOOTH MALFORMATION; YOUNG ADULT;

BASE SEQUENCE; EXONS; HUMANS; MALE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; SEQUENCE DELETION; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84890804833     PISSN: 03011623     EISSN: 15732584     Source Type: Journal    
DOI: 10.1007/s11255-012-0246-5     Document Type: Article

References (12)

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