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
A clinical review of generalized overgrowth syndromes in the era of massively parallel sequencing
- Creator: Kamien, Benjamin , Ronan, Anne , Poke, Gemma , Sinnerbrink, Ingrid , Baynam, Gareth , Ward, Michelle , Gibson, William T. , Dudding-Byth, Tracy , Scott, Rodney J.
- Resource Type: journal article
- Date: 2018