The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recom...
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
About this item
Full title
Author / Creator
Wilson, Brian T. , Stark, Zornitza , Sutton, Ruth E. , Danda, Sumita , Ekbote, Alka V. , Elsayed, Solaf M. , Gibson, Louise , Goodship, Judith A. , Jackson, Andrew P. , Te Keng, Wee ik , King, Mary D. , McCann, Emma , Motojima, Toshino , Murray, Jennifer E. , Omata, Taku , Pilz, Daniela , Pope, Kate , Sugita, Katsuo , White, Susan M. and Wilson, Ian J.
Publisher
New York: Elsevier Inc
Journal title
Language
English
Formats
Publication information
Publisher
New York: Elsevier Inc
Subjects
More information
Scope and Contents
Contents
Cockayne syndrome (CS) is a rare, autosomal-recessive disorder characterized by microcephaly, impaired postnatal growth, and premature pathological aging. It has historically been considered a DNA repair disorder; fibroblasts from classic patients often exhibit impaired transcription-coupled nucleotide excision repair. Previous studies have largely...
Alternative Titles
Full title
The Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care
Authors, Artists and Contributors
Author / Creator
Stark, Zornitza
Sutton, Ruth E.
Danda, Sumita
Ekbote, Alka V.
Elsayed, Solaf M.
Gibson, Louise
Goodship, Judith A.
Jackson, Andrew P.
Te Keng, Wee ik
King, Mary D.
McCann, Emma
Motojima, Toshino
Murray, Jennifer E.
Omata, Taku
Pilz, Daniela
Pope, Kate
Sugita, Katsuo
White, Susan M.
Wilson, Ian J.
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4857186
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_4857186
Other Identifiers
ISSN
1098-3600
E-ISSN
1530-0366
DOI
10.1038/gim.2015.110
