Prolidase Deficiency in a Mexican-American Patient Identified by Array CGH Reveals a Novel and the Largest PEPD Gene Deletion

Por Hintze, Jonathan P., Kirby, Amelia, Torti, Erin, Batanian, Jacqueline R.
Publicado no Mol Syndromol (2016)

Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian Disorders

Por Yang, Yaping, Muzny, Donna M., Reid, Jeffrey G., Bainbridge, Matthew N., Willis, Alecia, Ward, Patricia A., Braxton, Alicia, Beuten, Joke, Xia, Fan, Niu, Zhiyv, Hardison, Matthew, Person, Richard, Bekheirnia, Mir Reza, Leduc, Magalie S., Kirby, Amelia, Pham, Peter, Scull, Jennifer, Wang, Min, Ding, Yan, Plon, Sharon E., Lupski, James R., Beaudet, Arthur L., Gibbs, Richard A., Eng, Christine M.
Publicado em 2013