Frasier Syndrome Comes Full Circle: Genetic Studies Performed in an Original Patient - 15/08/11
Doi : 10.1016/j.jpeds.2005.02.029
Nicholas J. Wang, BS, Hae-Ri Song, MD, N. Carolyn Schanen, MD, PhD, Neil L. Litman, MD, S. Douglas Frasier, MD ⁎ 
From the Departments of Human Genetics and Pediatrics, The David Geffen School of Medicine at the University of California, Los Angeles, Calif, and Nemours Biomedical Research, Alfred I. duPont Hospital for Children, Nemours Children's Clinic, Wilmington, Del
Reprint requests: S. Douglas Frasier, MD, Department of Pediatrics, David Geffen School of Medicine at UCLA, 10833 Le Conte Ave, MDCC 22-375, Los Angeles, CA90095-1752.Abstract |
Frasier syndrome is a relatively rare disorder associated with XY gonadal dysgenesis, gonadoblastoma, and kidney failure. In this report, we identify a classic mutation in the Wilms' tumor 1 gene in one of the original cases of Frasier syndrome reported in this Journal in 1964.
Le texte complet de cet article est disponible en PDF.Mots-clés : DDS, FS
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| Funded by the UCLA Department of Pediatrics, and by NIH Grant Number P20 RR020173-01 from the National Center for Research Resources. Nemours Biomedical Research. |
© 2005
Elsevier Inc. Tous droits réservés.
Vol 146 - N° 6
P. 843-844 - juin 2005 Retour au numéro
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