Extension of the mutational and clinical spectrum of SOX2 related disorders: Description of six new cases and a novel association with suprasellar teratoma
Year: 2018
Type: article
Study design: Case Report
DOI: 10.1002/ajmg.a.40644
Authors: Patrick R. Blackburn, Oscar F. Chacon‐Camacho, Xilma R. Ortiz‐González, Mariana Reyes, Graciela A. Lopez‐Uriarte, Shabnam Zarei, Elizabeth J. Bhoj, Sofia Perez‐Solorzano, Rachael A. Vaubel, Marine I. Murphree, Jessica Nava, Vianney Cortes‐Gonzalez, Joseph E. Parisi, Cristina Villanueva‐Mendoza, Iris G. Tirado‐Torres, Dong Li, Eric W. Klee, Pavel N. Pichurin, Juan C. Zenteno
Institutions: Mayo Clinic, University of Minnesota Rochester, Institute of Ophthalmology, Children's Hospital of Philadelphia, University of Pennsylvania, Asociacion Para Evitar la Ceguera en México Hospital Dr. Luis Sánchez Bulnes, Universidad Autónoma de Nuevo León, Hospital Universitario Dr José Eleuterio Gonzalez, Universidad Nacional Autónoma de México
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: closed
OpenAlex ID: W2901468554