Severe form of Cockayne Syndrome with varying clinical presentation and no photosensitivity in a family

Journal of Child Neurology

Volumn 21, Issue 4, 2006, Pages 333-337

  Sonmez, Fatma Mujgan ^a   Celep, Figen ^a   Ugur, Sibel Aylin ^b   Tolun, Aslihan ^b  

^a KARADENIZ TECHNICAL UNIVERSITY   (Turkey)

^b BOGAZICI UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

EXCISION REPAIR CROSS COMPLEMENTING PROTEIN 6; GENE PRODUCT; GROWTH HORMONE; UNCLASSIFIED DRUG; VISUAL PIGMENT;

ARTICLE; ATROPHY; BRAIN CALCIFICATION; BRAIN DISEASE; CATARACT; CLINICAL ARTICLE; CLINICAL FEATURE; CLINICAL OBSERVATION; COCKAYNE SYNDROME; DISEASE SEVERITY; DWARFISM; FAMILY STUDY; FEMALE; GENETIC ANALYSIS; GENETIC LINKAGE; GROWTH HORMONE DEFICIENCY; HUMAN; INBREEDING; MALE; MENTAL DEFICIENCY; MOTOR DYSFUNCTION; ONSET AGE; PERIPHERAL NEUROPATHY; PHOTOSENSITIVITY; PIGEON THORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; RETINOPATHY; SENILITY; SPASTICITY; SUBCUTANEOUS FAT; WHITE MATTER;

BRAIN; CHILD; CHILD, PRESCHOOL; COCKAYNE SYNDROME; CONSANGUINITY; FAMILY; FATAL OUTCOME; FEMALE; HUMANS; MALE; PHOTOSENSITIVITY DISORDERS; SEVERITY OF ILLNESS INDEX; TOMOGRAPHY, X-RAY COMPUTED; TURKEY;

EID: 33745176238     PISSN: 08830738     EISSN: None     Source Type: Journal    
DOI: 10.1177/08830738060210041601     Document Type: Article

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