Endocrine and growth abnormalities in 4H leukodystrophy caused by variants in POLR3A, POLR3B, and POLR1C

- 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

Mutations in SNORD118 cause the cerebral microangiopathy leukoencephalopathy with calcifications and cysts

- 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.