A novel pathogenic DNA variation in the OCRL1 gene in lowe syndrome

JCRPE Journal of Clinical Research in Pediatric Endocrinology

Volumn 3, Issue 1, 2011, Pages 29-31

  Şimşek, Enver ^a   Şimşek, Tülay ^b   Dallar, Yildiz ^c   Can, Önder ^c   Willems, Patrick J ^d  

^a ESKISEHIR OSMANGAZI UNIVERSITY   (Turkey)

^b Ulucanlar Eye Training and Research Hospital   (Turkey)

^c Ankara Research and Training Hospital ^*  (Turkey)

^d Genetic Diagnostics Belgium   (Belgium)

Author keywords

Novel pathogenic DNA variation; Oculocerebrorenal syndrome

Indexed keywords

CALCITRIOL; CITRATE POTASSIUM; CITRATE SODIUM; DNA; GENOMIC DNA; OCULOCEREBRORENAL SYNDROME OF LOWE 1 PROTEIN; PHOSPHATE; PROTEIN; UNCLASSIFIED DRUG;

ARTICLE; BODY HEIGHT; BODY WEIGHT; CASE REPORT; CHILD; CONGENITAL CATARACT; CRYPTORCHISM; EXON; EYE MALFORMATION; FAILURE TO THRIVE; FANCONI RENOTUBULAR SYNDROME; FEEDING DISORDER; FREE THYROXINE INDEX; FRONTAL BOSSING; GENE MUTATION; GENETIC ANALYSIS; GENETIC VARIABILITY; HEAD CIRCUMFERENCE; HUMAN; HYPOPHOSPHATEMIC RICKETS; HYPOREFLEXIA; INVOLUNTARY MOVEMENT; JOINT HYPERMOBILITY; KIDNEY TUBULE ACIDOSIS; LABORATORY TEST; LOWE SYNDROME; MALE; MOTOR DEVELOPMENT; MOTOR DYSFUNCTION; MUSCLE HYPOTONIA; PHYSICAL EXAMINATION; PRESCHOOL CHILD; SKULL DEFECT;

CHILD, PRESCHOOL; DNA; HUMANS; MALE; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES; POINT MUTATION;

EID: 79952180033     PISSN: 13085727     EISSN: 13085735     Source Type: Journal    
DOI: 10.4274/jcrpe.v3i1.06     Document Type: Article

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