The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis

Por Kortüm, Fanny, Das, Soma, Flindt, Max, Morris-Rosendahl, Deborah J., Stefanova, Irina, Goldstein, Amy, Horn, Denise, Klopocki, Eva, Kluger, Gerhard, Martin, Peter, Rauch, Anita, Roumer, Agathe, Saitta, Sulagna, Walsh, Laurence E., Wieczorek, Dagmar, Uyanik, Gökhan, Kutsche, Kerstin, Dobyns, William B.
Publicado no J Med Genet (2011)

Pilot Phase II Trial of Imatinib Mesylate in Neurofibromatosis Type 1 patients with Plexiform Neurofibromas

Por Robertson, Kent A., Nalepa, Grzegorz, Yang, Feng-Chun, Bowers, Daniel C., Ho, Chang Y., Hutchins, Gary D., Croop, James M., Vik, Terry A., Denne, Scott C., Parada, Luis F., Hingtgen, Cynthia M., Walsh, Laurence E., Yu, Menggang, Pradhan, Kamnesh R., Edwards-Brown, Mary K., Cohen, Mervyn D., Fletcher, James W., Travers, Jeffrey B., Staser, Karl W., Lee, Melissa W., Sherman, Marcie R., Davis, Cynthia J., Miller, Lucy C., Ingram, David A., Clapp, D. Wade
Publicado no Lancet Oncol (2012)

WDR26 Haploinsufficiency Causes a Recognizable Syndrome of Intellectual Disability, Seizures, Abnormal Gait, and Distinctive Facial Features

Por Skraban, Cara M., Wells, Constance F., Markose, Preetha, Cho, Megan T., Nesbitt, Addie I., Au, P.Y. Billie, Begtrup, Amber, Bernat, John A., Bird, Lynne M., Cao, Kajia, de Brouwer, Arjan P.M., Denenberg, Elizabeth H., Douglas, Ganka, Gibson, Kristin M., Grand, Katheryn, Goldenberg, Alice, Innes, A. Micheil, Juusola, Jane, Kempers, Marlies, Kinning, Esther, Markie, David M., Owens, Martina M., Payne, Katelyn, Person, Richard, Pfundt, Rolph, Stocco, Amber, Turner, Claire L.S., Verbeek, Nienke E., Walsh, Laurence E., Warner, Taylor C., Wheeler, Patricia G., Wieczorek, Dagmar, Wilkens, Alisha B., Zonneveld-Huijssoon, Evelien, Kleefstra, Tjitske, Robertson, Stephen P., Santani, Avni, van Gassen, Koen L.I., Deardorff, Matthew A.
Publicado no Am J Hum Genet (2017)