Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision-Repair Defect and a Mutated XPD Gene, with Prenatal Diagnosis in a Triplet Pregnancy.

Authors :: Graham Jr., John M.
Anyane-Yeboa, Kwame
Raams, Anja
Appeldoorn, Esther
Jaspers, Nicolaas G. J.
Kleijer, Wim J.
Garritsen, Victor H.
Busch, David
Edersheim, Terri G.
Source :: American Journal of Human Genetics. Aug2001, Vol. 69 Issue 2, p291. 10p. 1 Black and White Photograph, 1 Diagram, 1 Graph.
Publication Year :: 2001
Abstract: Presents a study which proposed that cerebro-oculo-facio-skeletal syndrome be included within the spectrum of some nucleotide-excision repair disorders. Material and methods; Results; Discussion.

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