Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

A.B. Mckie; A. Alsaedi; J. de Vogt; K.E. Stuurman; M.M. Weiss; H. Shakeel; L. Tee; N.V. Morgan; P.G.J. Nikkels; G. van Haaften; S.M. Park; J.J. van der Smagt; M. Bugiani; E.R. Maher

doi:https://doi.org/10.1186/s40478-014-0148-0

Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

A.B. Mckie, A. Alsaedi, J. de Vogt, K.E. Stuurman, M.M. Weiss, H. Shakeel, L. Tee, N.V. Morgan, P.G.J. Nikkels, G. van Haaften, S.M. Park, J.J. van der Smagt, M. Bugiani, E.R. Maher

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

19 Citations (Scopus)

Original language	English
Article number	148
Journal	Acta Neuropathologica Communinications
Volume	2
DOIs	https://doi.org/10.1186/s40478-014-0148-0
Publication status	Published - 2014

Access to Document

https://doi.org/10.1186/s40478-014-0148-0

Cite this

Mckie, A. B., Alsaedi, A., de Vogt, J., Stuurman, K. E., Weiss, M. M., Shakeel, H., Tee, L., Morgan, N. V., Nikkels, P. G. J., van Haaften, G., Park, S. M., van der Smagt, J. J., Bugiani, M., & Maher, E. R. (2014). Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathologica Communinications, 2, [148]. https://doi.org/10.1186/s40478-014-0148-0

@article{33213fc8cf3e4479991f247d7d25f9f1,

title = "Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome",

author = "A.B. Mckie and A. Alsaedi and {de Vogt}, J. and K.E. Stuurman and M.M. Weiss and H. Shakeel and L. Tee and N.V. Morgan and P.G.J. Nikkels and {van Haaften}, G. and S.M. Park and {van der Smagt}, J.J. and M. Bugiani and E.R. Maher",

year = "2014",

doi = "https://doi.org/10.1186/s40478-014-0148-0",

language = "English",

volume = "2",

journal = "Acta Neuropathologica Communinications",

issn = "2051-5960",

publisher = "BioMed Central",

}

Mckie, AB, Alsaedi, A, de Vogt, J, Stuurman, KE, Weiss, MM, Shakeel, H, Tee, L, Morgan, NV, Nikkels, PGJ, van Haaften, G, Park, SM, van der Smagt, JJ, Bugiani, M & Maher, ER 2014, 'Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome', Acta Neuropathologica Communinications, vol. 2, 148. https://doi.org/10.1186/s40478-014-0148-0

TY - JOUR

T1 - Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome

AU - Mckie, A.B.

AU - Alsaedi, A.

AU - de Vogt, J.

AU - Stuurman, K.E.

AU - Weiss, M.M.

AU - Shakeel, H.

AU - Tee, L.

AU - Morgan, N.V.

AU - Nikkels, P.G.J.

AU - van Haaften, G.

AU - Park, S.M.

AU - van der Smagt, J.J.

AU - Bugiani, M.

AU - Maher, E.R.

PY - 2014

Y1 - 2014

U2 - https://doi.org/10.1186/s40478-014-0148-0

DO - https://doi.org/10.1186/s40478-014-0148-0

M3 - Article

C2 - 25476234

SN - 2051-5960

VL - 2

JO - Acta Neuropathologica Communinications

JF - Acta Neuropathologica Communinications

M1 - 148

ER -