Biallelic variants in KIF14 cause intellectual disability with microcephaly.

doi:10.1038/s41431-017-0088-9

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Article

Biallelic variants in KIF14 cause intellectual disability with microcephaly.

European journal of human genetics : EJHG - 1 Mar 2018

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

Abstract excerpt

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 with parental consanguinity. In the affected individuals of each family, homozygosity for likely pathogenic variants...

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Identifiers

PMID: 29343805
DOI: 10.1038/s41431-017-0088-9
PMCID: PMC5839044

Genes

KIF14
CIT

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Biallelic variants in KIF14 cause intellectual disability with microcephaly.PMID 29343805Read ↗

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