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

The American Journal of Human Genetics - Tập 69 - Trang 291-300 - 2001
John M. Graham1, Kwame Anyane-Yeboa2, Anja Raams3, Esther Appeldoorn3, Wim J. Kleijer4, Victor H. Garritsen4, David Busch5, Terri G. Edersheim6, Nicolaas G.J. Jaspers3
1Medical Genetics Birth Defects Center, Cedars-Sinai Medical Center, UCLA School of Medicine, Los Angeles
2The New York Presbyterian Hospital, Columbia University
3Departments of Cell Biology & Genetics University, Rotterdam
4Clinical Genetics, Erasmus University, Rotterdam
5Department of Environmental and Toxicologic Pathology, Armed Forces Institute of Pathology, Washington, DC
6Maternal and Fetal Medicine, New York

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The American Journal of Human Genetics

Tập 69

291-300

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