Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder

Homozygous missense variants in NTNG2, encoding a presynaptic netrin-G2 adhesion protein, lead to a distinct neurodevelopmental disorder

NTNG2 encodes netrin-G2, a membrane-anchored protein implicated in the molecular organization of neuronal circuitry and synaptic organization and diversification in vertebrates. In this study, through a combination of exome sequencing and autozygosity mapping, we have identified 16 individuals (from...

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主要な著者: Dias, CM, Punetha, J, Zheng, C, Mazaheri, N, Rad, A, Efthymiou, S, Petersen, A, Dehghani, M, Pehlivan, D, Partlow, JN, Posey, JE, Salpietro, V, Gezdirici, A, Malamiri, RA, Menabawy, NM, Selim, LA, Mehrjardi, MY, Banu, S, Polla, DL, Yang, E, Varaghchi, J, Mitani, T, Van Beusekom, E, Najafi, M, Sedaghat, A, Keller-Ramey, J, Durham, L, Coban-Akdemir, Z, Karaca, E, Orlova, V, Schaeken, LLM, Sherafat, A, Jhangiani, SN, Stanley, V, Shariati, G, Galehdari, H, Gleeson, JG, Walsh, CA, Lupski, JR, Seiradake, E, Houlden, H, Van Bokhoven, H, Maroofian, R
フォーマット: Journal article
言語:English
出版事項: Elsevier 2019

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