Biallelic variants in KIF14 cause intellectual disability with microcephaly

Kinesin proteins are critical for various cellular functions such as intracellular transport and cell division, and many members of the family have been linked to monogenic disorders and cancer. We report eight individuals with intellectual disability and microcephaly from four unrelated families wi...

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Detalles Bibliográficos
Autores principales: Makrythanasis, Periklis, Maroofian, Reza, Stray-Pedersen, Asbjørg, Musaev, Damir, Zaki, Maha S., Mahmoud, Iman G., Selim, Laila, Elbadawy, Amera, Jhangiani, Shalini N., Coban Akdemir, Zeynep H., Gambin, Tomasz, Sorte, Hanne S., Heiberg, Arvid, McEvoy-Venneri, Jennifer, James, Kiely N., Stanley, Valentina, Belandres, Denice, Guipponi, Michel, Santoni, Federico A., Ahangari, Najmeh, Tara, Fatemeh, Doosti, Mohammad, Iwaszkiewicz, Justyna, Zoete, Vincent, Backe, Paul Hoff, Hamamy, Hanan, Gleeson, Joseph G., Lupski, James R., Karimiani, Ehsan Ghayoor, Antonarakis, Stylianos E.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839044/
https://www.ncbi.nlm.nih.gov/pubmed/29343805
http://dx.doi.org/10.1038/s41431-017-0088-9

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5839044/
https://www.ncbi.nlm.nih.gov/pubmed/29343805
http://dx.doi.org/10.1038/s41431-017-0088-9

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