Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C
- Creator: Pelletier, Félixe , Perrier, Stefanie , Cayami, Ferdy K. , Mirchi, Amytice , Saikali, Sstephan , Tran, Luan T. , Ulrick, N , Guerrero, Kether , Rampakakis, Emmanouil , van Spaendonk, Rosalina M. L. , Naidu, Sakkubai , Pohl, Daniela , Gibson, William T. , Demos, Michelle , Goizet, Cyril , Tejera-Martin, Ingrid , Potic, Ana , Fogel, Brent L. , Brais, Bernard , Sylvain, Michel , Ronan, Anne , Van Spaendonk, RML
- Resource Type: journal article
- Date: 2021
Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts
- Creator: Jenkinson, Emma M. , Rodero, Mathieu P. , Bhaskar, Sanjeev S. , O'Sullivan, James , Baerlocher, Gabriela M. , Haubitz, Monika , Aubert, Geraldine , Barañano, Kristin W. , Barnicoat, Angela J. , Battini, Roberta , Berger, Andrea , Blair, Edward M. , Kasher, Paul R. , Brunstrom-Hernandez, Janice E. , Buckard, Johannes A. , Cassiman, David M. , Caumes, Rosaline , Cordelli, Duccio M. , De Waele, Liesbeth M. , Fay, Alexander J. , Ferreira, Patrick , Fletcher, Nicholas A. , Fryer, Alan E. , Uggenti, Carolina , Goel, Himanshu , Hemingway, Cheryl A. , Henneke, Marco , Hughes, Imelda , Jefferson, Rosalind J. , Kumar, Ram , Lagae, Lieven , Landrieu, Pierre G. , Lourenço, Charles M. , Malpas, Timothy J. , Oojageer, Anthony , Mehta, Sarju G. , Metz, Imke , Naidu, Sakkubai , Õunap, Katrin , Panzer, Axel , Prabhakar, Prab , Quaghebeur, Geraldine , Schiffmann, Raphael , Sherr, Elliott H. , Sinnathuray, Kanaga R. , Goosey, Laurence C. , Soh, Calvin , Stewart, Helen S. , Stone, John , Van Esch, Hilde , Van Mol, Christine E. G. , Vanderver, Adeline , Wakeling, Emma L. , Whitney, Andrea , Pavitt, Graham D. , Griffiths-Jones, Sam , Rose, Yoann , Rice, Gillian I. , Revy, Patrick , van der Knaap, Margo S. , Livingston, John H. , O'Keefe, Raymond T. , Crow, Yanick J. , Kershaw, Christopher J. , Urquhart, Jill E. , Williams, Simon G.
- Resource Type: journal article
- Date: 2016