학술논문
Phenotypic spectrum of the recurrent TRPM3 p.(Val837Met) substitution in seven individuals with global developmental delay and hypotonia
Document Type
Article
Author
Lines, M.A.; Innes, A.M.; Goldenberg, P.; Wong, A.; Srivastava, S.; Bayat, A.; Hove, H.; Karstensen, H.G.; Anyane-Yeboa, K.; Liao, J.; Jiang, N.; May, A.; Guzman, E.; Morleo, M.; Castello, R.; D'Arrigo, S.; Ciaccio, C.; Pantaleoni, C.; McKee, S.; Ong, J.; Zibdeh-Lough, H.; Tran-Mau-Them, F.; Gerasimenko, A.; Heron, D.; Keren, B.; de Sainte Agathe, J.-M.; Margot, H.; Burglen, L.; Voets, T.; Vriens, J.; Dyment, D.A.
Source
In: American Journal of Medical Genetics, Part A . (American Journal of Medical Genetics, Part A, June 2022, 188(6):1667-1675)
Subject
Language
English
ISSN
15524833
15524825
15524825