A novel OCRL1 gene mutation in a Turkish child with Lowe syndrome

Turkish Journal of Pediatrics

Volumn 55, Issue 1, 2013, Pages 82-85

  Kanik, Ali ^a   Kasap Demir, Belde ^a   Ateşli, Rüya ^a   Eliaçik, Kayiv ^a   Yavaşcan, Önder ^a   Helvac, Mehmet ^a  

^a Tepecik Research and Training Hospital   (Turkey)

Author keywords

Lowe syndrome; Novel mutation; OCRL1 gene

Indexed keywords

BETA 2 MICROGLOBULIN; CALCITRIOL; CALCIUM; DIPEPTIDYL CARBOXYPEPTIDASE INHIBITOR;

AMINO ACID SUBSTITUTION; ARTICLE; CASE REPORT; CATARACT EXTRACTION; CHILD; CREATININE CLEARANCE; ENCEPHALOMALACIA; FAILURE TO THRIVE; FRAMESHIFT MUTATION; GENE; GENE DELETION; GENE MUTATION; GLIOSIS; GLOMERULUS FILTRATION RATE; HUMAN; INTELLIGENCE QUOTIENT; LOWE SYNDROME; MALE; NUCLEAR MAGNETIC RESONANCE IMAGING; OCRL1 GENE; OSTEOPOROSIS; PROTEINURIA; SCHOOL CHILD; WALKING DIFFICULTY;

CHILD; FRAMESHIFT MUTATION; HUMANS; MALE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; PHYSICAL EXAMINATION; TURKEY;

EID: 84876540881     PISSN: 00414301     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (14)

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