De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features

Autor: Lehalle, D., Vabres, P., Bierhals, T., Cho, M. T., Cogne, B., Avila, M., Carmignac, V., Duplomb-Jego, L., De Bont, E., Duffourd, Y., Duijkers, F., Elpeleg, O., Fattal-Valevski, A., Genevieve, D., Guimier, A., Harris, D., Hempel, M., Isidor, B., Jouan, T., Kuentz, P., Lichtenbelt, K., Ramey, V. Loik, Pasquier, L., St-Onge, J., Sorlin, A., Thevenon, J., Torti, E., Van Gassen, K., Van Haelst, M., van Koningsbruggen, S., Riviere, J., Thauvin, C., Betschinger, J., Faivre, L.
Přispěvatelé: Clinical genetics, Amsterdam Neuroscience - Complex Trait Genetics, Amsterdam Reproduction & Development
Jazyk: angličtina
Rok vydání: 2019
Zdroj: Lehalle, D, Vabres, P, Bierhals, T, Cho, M T, Cogne, B, Avila, M, Carmignac, V, Duplomb-Jego, L, De Bont, E, Duffourd, Y, Duijkers, F, Elpeleg, O, Fattal-Valevski, A, Genevieve, D, Guimier, A, Harris, D, Hempel, M, Isidor, B, Jouan, T, Kuentz, P, Lichtenbelt, K, Ramey, V L, Pasquier, L, St-Onge, J, Sorlin, A, Thevenon, J, Torti, E, Van Gassen, K, Van Haelst, M, van Koningsbruggen, S, Riviere, J, Thauvin, C, Betschinger, J & Faivre, L 2019, ' De novo missense mutations in the X-linked TFE3 gene cause intellectual disability with pigmentary mosaicism and storage disorder-like features ', European Journal of Human Genetics, vol. 27, pp. 1094-1094 .
European Journal of Human Genetics, 27, 1094-1094. Nature Publishing Group
ISSN: 1018-4813
Databáze: OpenAIRE
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