P.004 Endocrine and growth abnormalities in 4H leukodystrophy patients with a molecular diagnosis
Pelletier, F, Mirchi, A, Cayami, FK, Tran, LT, Ulrick, N, Polychronakos, C, Vanderver, A, Wolf, NI, Bernard, G
Published in Canadian journal of neurological sciences (01.06.2016)
Published in Canadian journal of neurological sciences (01.06.2016)
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P.075 Clinical spectrum of POLR3-related leukodystrophy caused by biallelic POLR1C pathogenic variants
Gauquelin, L, Cayami, FK, Sztriha, L, Yoon, G, Tran, LT, Guerrero, K, Hocke, F, van Spaendonk, RM, Fung, EL, D’Arrigo, S, Vasco, G, Thiffault, I, Niyazov, DM, Person, R, Lewis, KS, Wassmer, E, Prescott, T, Fallon, P, McEntagart, M, Rankin, J, Webster, R, Philippi, H, van de Warrenburg, B, Timmann, D, Dixit, A, Searle, C, Thakur, N, Kruer, MC, Sharma, S, Vanderver, A, Tonduti, D, van der Knaap, MS, Bertini, E, Goizet, C, Fribourg, S, Wolf, NI, Bernard, G
Published in Canadian journal of neurological sciences (01.06.2019)
Published in Canadian journal of neurological sciences (01.06.2019)
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