The Cockayne Syndrome Natural History (CoSyNH) study: Clinical findings in 102 individuals and recommendations for care

Genetics in Medicine

Volumn 18, Issue 5, 2016, Pages 483-493

  Wilson, Brian T ^a,b   Stark, Zornitza ^c   Sutton, Ruth E ^a   Danda, Sumita ^d   Ekbote, Alka V ^d   Elsayed, Solaf M ^e,f   Gibson, Louise ^g   Goodship, Judith A ^a,b   Jackson, Andrew P ^h   Keng, Wee Teik ⁱ   King, Mary D ^j,k   McCann, Emma ^l   Motojima, Toshino ^m   Murray, Jennifer E ^h   Omata, Taku ^m   Pilz, Daniela ⁿ   Pope, Kate ^c   Sugita, Katsuo ^o   White, Susan M ^c,p   Wilson, Ian J ^b  

^a NEWCASTLE UPON TYNE HOSPITALS NHS FOUNDATION TRUST   (United Kingdom)

^b NEWCASTLE UNIVERSITY   (United Kingdom)

^c MURDOCH CHILDREN'S RESEARCH INSTITUTE   (Australia)

^d CHRISTIAN MEDICAL COLLEGE   (India)

^e Medical Genetics Center   (Egypt)

^f Ain Shams University   (Egypt)

^g UNIVERSITY COLLEGE CORK   (Ireland)

^h UNIVERSITY OF EDINBURGH   (United Kingdom)

ⁱ HOSPITAL KUALA LUMPUR   (Malaysia)

^j CHILDREN S UNIVERSITY HOSPITAL   (Ireland)

^k UNIVERSITY COLLEGE DUBLIN   (Ireland)

^l GLAN CLWYD HOSPITAL   (United Kingdom)

^m CHIBA CHILDREN'S HOSPITAL   (Japan)

ⁿ UNIVERSITY HOSPITAL OF WALES   (United Kingdom)

^o CHIBA UNIVERSITY   (Japan)

^p UNIVERSITY OF MELBOURNE   (Australia)

more..

Author keywords

[No Author keywords available]

Indexed keywords

AMINOTRANSFERASE; CODEINE; METRONIDAZOLE; PARACETAMOL; DNA HELICASE; DNA LIGASE; ERCC6 PROTEIN, HUMAN; ERCC8 PROTEIN, HUMAN; TRANSCRIPTION FACTOR;

ACUTE LIVER FAILURE; ADOLESCENT; ADULT; AMINOTRANSFERASE BLOOD LEVEL; ANTIBIOTIC THERAPY; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; BLISTER; BLUNTED AFFECT; BRAIN CALCIFICATION; BRAIN VENTRICLE DILATATION; CATARACT; CEREBELLUM ATROPHY; CEREBELLUM HYPOPLASIA; CHILD; CHOLESTASIS; CLINICAL EVALUATION; CLINICAL FEATURE; COCKAYNE SYNDROME; CONGESTIVE CARDIOMYOPATHY; DENTAL CARIES; DIABETES MELLITUS; DRUG OVERDOSE; ENAMEL HYPOPLASIA; FACIES; FAMILY; FEEDING DIFFICULTY; FEMALE; GASTROESOPHAGEAL REFLUX; GROWTH DISORDER; HEARING IMPAIRMENT; HEART FAILURE; HUMAN; HYPERPIGMENTATION; HYPOTHYROIDISM; IMPAIRED GLUCOSE TOLERANCE; INFANT; JOINT CONTRACTURE; LIVER DYSFUNCTION; LIVER INJURY; MAJOR CLINICAL STUDY; MALE; MICROCEPHALY; MIXED HEARING LOSS; MUSCLE WEAKNESS; MYELIN DEFICIENCY; NEPHROTIC SYNDROME; NERVE CELL DIFFERENTIATION; PATIENT CARE; PERCEPTION DEAFNESS; PHOTOPHOBIA; PHOTOSENSITIVITY; PRACTICE GUIDELINE; PRENATAL PERIOD; PROGNOSIS; RARE DISEASE; RESPIRATION DEPRESSION; RESPIRATORY TRACT INFECTION; RETINA DYSTROPHY; SEIZURE; SUNBURN; SUPPORT GROUP; TREMOR; DNA REPAIR; GENETICS; PATHOPHYSIOLOGY; PRESCHOOL CHILD; YOUNG ADULT;

ADOLESCENT; ADULT; CHILD; CHILD, PRESCHOOL; COCKAYNE SYNDROME; DNA HELICASES; DNA REPAIR; DNA REPAIR ENZYMES; FEMALE; HUMANS; INFANT; MALE; TRANSCRIPTION FACTORS; YOUNG ADULT;

EID: 84964857996     PISSN: 10983600     EISSN: 15300366     Source Type: Journal    
DOI: 10.1038/gim.2015.110     Document Type: Article

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