Novel PLEC gene variants causing congenital myasthenic syndrome
Gonzalez Garcia, Aixa, Tutmaher, Michelle S., Upadhyayula, Saila R., Sanchez Russo, Rossana, Verma, Sumit
Published in Muscle & nerve (01.12.2019)
Published in Muscle & nerve (01.12.2019)
Get full text
Journal Article
Rare SUZ12 variants commonly cause an overgrowth phenotype
Cyrus, Sharri S., Cohen, Ana S. A., Agbahovbe, Ruky, Avela, Kristiina, Yeung, Kit S., Chung, Brian H. Y., Luk, Ho‐Ming, Tkachenko, Nataliya, Choufani, Sanaa, Weksberg, Rosanna, Lopez‐Rangel, Elena, Brown, Kathleen, Saenz, Margarita S., Svihovec, Shayna, McCandless, Shawn E., Bird, Lynne M., Garcia, Aixa Gonzalez, Gambello, Michael J., McWalter, Kirsty, Schnur, Rhonda E., An, Jianghong, Jones, Steven J. M., Bhalla, Sanjiv K., Pinz, Hailey, Braddock, Stephen R., Gibson, William T.
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Published in American journal of medical genetics. Part C, Seminars in medical genetics (01.12.2019)
Get full text
Journal Article