Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome

F. U. Basmanav, L. Cau, A. Tafazzoli, M. Mechin, S. Wolf, M. Romano, F. Valentin, H. Wiegmann, A. Huchenq, N. Garcia Bartels, A. Kilic, S. George, D. J. Ralser, D. J. Ferguson, H. Thiele, J. Altmueller, P. Nuernberg, A. Buchner, L. Weibel, N. WagnerR. Grimalt, A. Bygum, G. Serre, U. Blume-Peytavi, E. Sprecher, V. Oji, H. Hamm, P. Farrant, M. Simon, R. C. Betz

Publikation: Bidrag til tidsskriftKonferenceabstrakt i tidsskriftForskning

OriginalsprogEngelsk
ArtikelnummerC05.1
TidsskriftEuropean Journal of Human Genetics
Vol/bind26
Udgave nummerS
Sider (fra-til)45-46
Antal sider2
ISSN1018-4813
DOI
StatusUdgivet - 2019
Begivenhed50th European Society of Human Genetics Conference -
Varighed: 16. jun. 201819. jun. 2018

Konference

Konference50th European Society of Human Genetics Conference
Periode16/06/201819/06/2018

Bibliografisk note

50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017

Citationsformater

Basmanav, F. U., Cau, L., Tafazzoli, A., Mechin, M., Wolf, S., Romano, M., Valentin, F., Wiegmann, H., Huchenq, A., Bartels, N. G., Kilic, A., George, S., Ralser, D. J., Ferguson, D. J., Thiele, H., Altmueller, J., Nuernberg, P., Buchner, A., Weibel, L., ... Betz, R. C. (2019). Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. European Journal of Human Genetics, 26(S), 45-46. [C05.1]. https://doi.org/10.1038/s41431-018-0249-5