- Title
-
De novo missense variants in phosphatidylinositol kinase PIP5KIγ underlie a neurodevelopmental syndrome associated with altered phosphoinositide signaling
- Authors
- Morleo, M., Venditti, R., Theodorou, E., Briere, L.C., Rosello, M., Tirozzi, A., Tammaro, R., Al-Badri, N., High, F.A., Shi, J., Undiagnosed Diseases Network, Telethon Undiagnosed Diseases Program, Putti, E., Ferrante, L., Cetrangolo, V., Torella, A., Walker, M.A., Tenconi, R., Iascone, M., Mei, D., Guerrini, R., van der Smagt, J., Kroes, H.Y., van Gassen, K.L.I., Bilal, M., Umair, M., Pingault, V., Attie-Bitach, T., Amiel, J., Ejaz, R., Rodan, L., Zollino, M., Agrawal, P.B., Del Bene, F., Nigro, V., Sweetser, D.A., Franco, B.
- Source
- Full text @ Am. J. Hum. Genet.
ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. |
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ZFIN is incorporating published figure images and captions as part of an ongoing project. Figures from some publications have not yet been curated, or are not available for display because of copyright restrictions. PHENOTYPE:
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