Manitoba Aboriginal Kindred with Original Cerebro-Oculo-Facio-Skeletal (COFS) Syndrome Has a Mutation in the Cockayne Syndrome Group B (CSB) Gene

Evidence that two probands within COFS syndrome which was originally reported have cellular phenotypes indistinguishable from those in cockayne syndrome (CS) cells, which suggests that CS and COFS syndrome share a common pathogenesis.
Author/Creator
Lisiane B. Meira
John M. Graham
Cheryl R. Greenberg
David B. Busch
Ana T. B. Doughty
Deborah W. Ziffer
Donna M. Coleman
Isabelle Savre-Train
Errol C. Friedberg
Open Access
No
Primary Source
No
Citation
American Journal of Human Genetics, vol. 66, no. 4, April 2000, pp. 1221-1228
Publication Date
2000-04
Location
Resource Type
Articles -- Scholarly, peer reviewed
Format
Text -- PDF
Text -- HTML
Language
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