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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Bibliografiset tiedot
Julkaisussa:Eur J Hum Genet
Päätekijät: 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.
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Nature Publishing Group UK 2018
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Article
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC5839044/
https://ncbi.nlm.nih.gov/pubmed/29343805
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41431-017-0088-9
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