Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Arjan Theil; E Botta; Anja Raams; DEC Smith; MI Mendes; G Caligiuri; S Giachetti; S Bione; R Carriero; G Liberi; L Zardoni; Sigrid Swagemakers; GS Salomons; A Sarasin; A Lehmann; Peter van der Spek; T Ogi; Jan Hoeijmakers; Wim Vermeulen; D orioli

doi:10.1016/j.ajhg.2019.06.017

Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

Arjan Theil
, E Botta
, Anja Raams
, DEC Smith
, MI Mendes
, G Caligiuri
, S Giachetti
, S Bione
, R Carriero
, G Liberi
, L Zardoni
, Sigrid Swagemakers
, GS Salomons
, A Sarasin
, A Lehmann
, Peter van der Spek
, T Ogi
, Jan Hoeijmakers
, Wim Vermeulen
, D orioli

Research output: Contribution to journal › Article › Academic › peer-review

53 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	434-440
Number of pages	7
Journal	American Journal of Human Genetics
Volume	105
Issue number	2
DOIs	https://doi.org/10.1016/j.ajhg.2019.06.017
Publication status	Published - 2019

Research programs

EMC MGC-01-12-03
EMC MM-03-24-01

Access to Document

10.1016/j.ajhg.2019.06.017

http://hdl.handle.net/1765/118598

Cite this

Theil, A., Botta, E., Raams, A., Smith, DEC., Mendes, MI., Caligiuri, G., Giachetti, S., Bione, S., Carriero, R., Liberi, G., Zardoni, L., Swagemakers, S., Salomons, GS., Sarasin, A., Lehmann, A., van der Spek, P., Ogi, T., Hoeijmakers, J., Vermeulen, W., & orioli, D. (2019). Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype. American Journal of Human Genetics, 105(2), 434-440. https://doi.org/10.1016/j.ajhg.2019.06.017

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author = "Arjan Theil and E Botta and Anja Raams and DEC Smith and MI Mendes and G Caligiuri and S Giachetti and S Bione and R Carriero and G Liberi and L Zardoni and Sigrid Swagemakers and GS Salomons and A Sarasin and A Lehmann and \{van der Spek\}, Peter and T Ogi and Jan Hoeijmakers and Wim Vermeulen and D orioli",

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doi = "10.1016/j.ajhg.2019.06.017",

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Theil, A, Botta, E, Raams, A, Smith, DEC, Mendes, MI, Caligiuri, G, Giachetti, S, Bione, S, Carriero, R, Liberi, G, Zardoni, L, Swagemakers, S, Salomons, GS, Sarasin, A, Lehmann, A, van der Spek, P, Ogi, T, Hoeijmakers, J , Vermeulen, W & orioli, D 2019, 'Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype', American Journal of Human Genetics, vol. 105, no. 2, pp. 434-440. https://doi.org/10.1016/j.ajhg.2019.06.017

TY - JOUR

T1 - Bi-allelic TARS Mutations Are Associated with Brittle Hair Phenotype

AU - Theil, Arjan

AU - Botta, E

AU - Raams, Anja

AU - Smith, DEC

AU - Mendes, MI

AU - Caligiuri, G

AU - Giachetti, S

AU - Bione, S

AU - Carriero, R

AU - Liberi, G

AU - Zardoni, L

AU - Swagemakers, Sigrid

AU - Salomons, GS

AU - Sarasin, A

AU - Lehmann, A

AU - van der Spek, Peter

AU - Ogi, T

AU - Hoeijmakers, Jan

AU - Vermeulen, Wim

AU - orioli, D

PY - 2019

Y1 - 2019

U2 - 10.1016/j.ajhg.2019.06.017

DO - 10.1016/j.ajhg.2019.06.017

M3 - Article

C2 - 31374204

SN - 0002-9297

VL - 105

SP - 434

EP - 440

JO - American Journal of Human Genetics

JF - American Journal of Human Genetics

IS - 2

ER -