Cerebro-Oculo-Facio-Skeletal Syndrome with a Nucleotide Excision–Repair Defect and a MutatedXPDGene, with Prenatal Diagnosis in a Triplet Pregnancy


John M. Graham,Kwame Anyane-Yeboa,Anja Raams,Esther Appeldoorn,Wim J. Kleijer,Victor H. Garritsen,David Busch,Terri G. Edersheim,Nicolaas G.J. Jaspers


The American Journal of Human Genetics




August 2001

Copyright © 2001, Elsevier

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