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. Wagner; R. Grimalt; A. Bygum; G. Serre; U. Blume-Peytavi; E. Sprecher; V. Oji; H. Hamm; P. Farrant; M. Simon; R. C. Betz

doi:10.1038/s41431-018-0249-5

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

KI, Dermato-Venerologi

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning

Originalsprog	Engelsk
Artikelnummer	C05.1
Tidsskrift	European Journal of Human Genetics
Vol/bind	26
Udgave nummer	S
Sider (fra-til)	45-46
Antal sider	2
ISSN	1018-4813
DOI	https://doi.org/10.1038/s41431-018-0249-5
Status	Udgivet - 2019
Begivenhed	50th European Society of Human Genetics Conference - Varighed: 16. jun. 2018 → 19. jun. 2018

Konference

Konference	50th European Society of Human Genetics Conference
Periode	16/06/2018 → 19/06/2018

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

Basmanav, F. U. ; Cau, L. ; Tafazzoli, A. ; Mechin, M. ; Wolf, S. ; Romano, M. ; Valentin, F. ; Wiegmann, H. ; Huchenq, A. ; Bartels, N. Garcia ; Kilic, A. ; George, S. ; Ralser, D. J. ; Ferguson, D. J. ; Thiele, H. ; Altmueller, J. ; Nuernberg, P. ; Buchner, A. ; Weibel, L. ; Wagner, N. ; Grimalt, R. ; Bygum, A. ; Serre, G. ; Blume-Peytavi, U. ; Sprecher, E. ; Oji, V. ; Hamm, H. ; Farrant, P. ; Simon, M. ; Betz, R. C. / Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. I: European Journal of Human Genetics. 2019 ; Bind 26, Nr. S. s. 45-46.

@article{859a0a6d2db1495faaf3cb116f75873a,

title = "Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome",

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

note = "50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017; 50th European Society of Human Genetics Conference ; Conference date: 16-06-2018 Through 19-06-2018",

year = "2019",

doi = "10.1038/s41431-018-0249-5",

language = "English",

volume = "26",

pages = "45--46",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Nature Publishing Group",

number = "S",

}

Basmanav, FU, Cau, L, Tafazzoli, A, Mechin, M, Wolf, S, Romano, M, Valentin, F, Wiegmann, H, Huchenq, A, Bartels, NG, Kilic, A, George, S, Ralser, DJ, Ferguson, DJ, Thiele, H, Altmueller, J, Nuernberg, P, Buchner, A, Weibel, L, Wagner, N, Grimalt, R, Bygum, A, Serre, G, Blume-Peytavi, U, Sprecher, E, Oji, V, Hamm, H, Farrant, P, Simon, M & Betz, RC 2019, 'Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome', European Journal of Human Genetics, bind 26, nr. S, C05.1, s. 45-46. https://doi.org/10.1038/s41431-018-0249-5

Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome. / Basmanav, F. U.; Cau, L.; Tafazzoli, A.; Mechin, M.; Wolf, S.; Romano, M.; Valentin, F.; Wiegmann, H.; Huchenq, A.; Bartels, N. Garcia; Kilic, A.; George, S.; Ralser, D. J.; Ferguson, D. J.; Thiele, H.; Altmueller, J.; Nuernberg, P.; Buchner, A.; Weibel, L.; Wagner, N.; Grimalt, R.; Bygum, A.; Serre, G.; Blume-Peytavi, U.; Sprecher, E.; Oji, V.; Hamm, H.; Farrant, P.; Simon, M.; Betz, R. C.

I: European Journal of Human Genetics, Bind 26, Nr. S, C05.1, 2019, s. 45-46.

Publikation: Bidrag til tidsskrift › Konferenceabstrakt i tidsskrift › Forskning

TY - ABST

T1 - Mutations in three genes encoding proteins involved in hair shaft formation cause uncombable hair syndrome

AU - Basmanav, F. U.

AU - Cau, L.

AU - Tafazzoli, A.

AU - Mechin, M.

AU - Wolf, S.

AU - Romano, M.

AU - Valentin, F.

AU - Wiegmann, H.

AU - Huchenq, A.

AU - Bartels, N. Garcia

AU - Kilic, A.

AU - George, S.

AU - Ralser, D. J.

AU - Ferguson, D. J.

AU - Thiele, H.

AU - Altmueller, J.

AU - Nuernberg, P.

AU - Buchner, A.

AU - Weibel, L.

AU - Wagner, N.

AU - Grimalt, R.

AU - Bygum, A.

AU - Serre, G.

AU - Blume-Peytavi, U.

AU - Sprecher, E.

AU - Oji, V.

AU - Hamm, H.

AU - Farrant, P.

AU - Simon, M.

AU - Betz, R. C.

N1 - 50th European-Society-of-Human-Genetics (ESHG) Conference, Copenhagen, DENMARK, MAY 27-30, 2017

PY - 2019

Y1 - 2019

U2 - 10.1038/s41431-018-0249-5

DO - 10.1038/s41431-018-0249-5

M3 - Conference abstract in journal

VL - 26

SP - 45

EP - 46

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - S

M1 - C05.1

T2 - 50th European Society of Human Genetics Conference

Y2 - 16 June 2018 through 19 June 2018

ER -

Dokumenter og links

10.1038/s41431-018-0249-5