Magnetic resonance imaging, magnetic resonance spectroscopy, and facial dysmorphism in a case of lowe syndrome with novel OCRL1 gene mutation

Journal of Child Neurology

Volumn 24, Issue 1, 2009, Pages 93-96

  Yuksel, Adnan ^a   Karaca, Ender ^a   Albayram, Sait M ^a  

^a ISTANBUL UNIVERSITY   (Turkey)

Author keywords

Facial dysmorphism; Magnetic resonance imaging and spectroscopy; Novel OCRL1 gene mutation

Indexed keywords

INOSITOL; PROTEIN DERIVATIVE; PROTEIN OCRL1; UNCLASSIFIED DRUG;

ALBUMINURIA; AMINO ACID URINE LEVEL; ARTICLE; CHROMATOGRAPHY; CLINICAL ARTICLE; CLINICAL FEATURE; COGNITIVE DEFECT; CONGENITAL CATARACT; FACE DYSMORPHIA; GENE MUTATION; GENETIC ANALYSIS; HEAD CIRCUMFERENCE; HETEROZYGOTE DETECTION; HUMAN; IMAGE DISPLAY; LOWE SYNDROME; MALE; MENTAL DEFICIENCY; NUCLEAR MAGNETIC RESONANCE IMAGING; NUCLEAR MAGNETIC RESONANCE SPECTROSCOPY; PRIORITY JOURNAL; PROTEIN BLOOD LEVEL; PROTEIN ELECTROPHORESIS; SCHOOL CHILD; SCOLIOSIS; TENDON REFLEX; THORAX RADIOGRAPHY; URINALYSIS; URINE PH;

ASPARAGINE; BRAIN; CHILD; DNA MUTATIONAL ANALYSIS; EXONS; FACE; HUMANS; LYSINE; MAGNETIC RESONANCE IMAGING; MAGNETIC RESONANCE SPECTROSCOPY; MALE; MUTATION; OCULOCEREBRORENAL SYNDROME; PHOSPHORIC MONOESTER HYDROLASES;

EID: 59349096122     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/0883073808321047     Document Type: Article

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