A homozygous missense variant in<i>TUBGCP2</i>alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination

Oktay, Y; Gungor, S; Hiz, S; Yaramis, A; Aranguren-Ibanez, A; Yis, U; Sonmezler, E; Yilmaz, E; Ekinci, B; Aslan, M; Balaraju, S; Szabo, N; Laurie, S; Beltran, S; Hathazi, D; MacArthur, D; Roos, A; Lochmuller, H; Vernos, I; Horvath, R

A homozygous missense variant inTUBGCP2alter the g-tubulin ring complex leading to abnormal cortical development, pontocerebellar atrophy and altered myelination

Accepted version

Peer-reviewed

Repository URI

https://www.repository.cam.ac.uk/handle/1810/317424

Repository DOI

https://doi.org/10.17863/CAM.64537

Files

Accepted version (4.05 MB)

Type

Conference Object

Authors

Oktay, Y

Gungor, S

Hiz, S

Yaramis, A

Aranguren-Ibanez, A

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Journal Title

EUROPEAN JOURNAL OF HUMAN GENETICS

Journal ISSN

1018-4813
1476-5438

Volume Title

28

Publisher DOI

https://doi.org/10.17863/CAM.64537

Rights

Sponsorship

MRC (MR/N027302/2)
Addenbrooke's Charitable Trust (ACT) (64/17 A)
Wellcome Trust (109915/A/15/Z)

Collections

Cambridge University Research Outputs