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

A.B. McKie; A. Al-Saedi; J. Vogt; K.E. Stuurman; M.M. Weiss; H. Shakeel; L. Tee; N.V. Morgan; P.G.J. Nikkels; G.W. van Haaften; S.M. Park; J.J. van der Smagt; M. Bugiani; ER Maher

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

Translated title of the contribution: Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.

A.B. McKie
, A. Al-Saedi
, J. Vogt
, K.E. Stuurman
, M.M. Weiss
, H. Shakeel
, L. Tee
, N.V. Morgan
, P.G.J. Nikkels
, G.W. van Haaften
, S.M. Park
, J.J. van der Smagt
, M. Bugiani
, ER Maher

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

Translated title of the contribution	Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome.
Original language	Undefined/Unknown
Pages (from-to)	148
Number of pages	1
Journal	Acta Neuropathologica Communications [E]
Volume	2
Issue number	1
Publication status	Published - 2014

Access to Document

http://www.ncbi.nlm.nih.gov/pubmed/25476234

Cite this

McKie, A. B., Al-Saedi, A., Vogt, J., Stuurman, K. E., Weiss, M. M., Shakeel, H., Tee, L., Morgan, N. V., Nikkels, P. G. J., van Haaften, G. W., Park, S. M., van der Smagt, J. J., Bugiani, M., & Maher, ER. (2014). Germline mutations in RYR1 are associated with foetal akinesia deformation sequence/lethal multiple pterygium syndrome. Acta Neuropathologica Communications [E], 2(1), 148. http://www.ncbi.nlm.nih.gov/pubmed/25476234

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

author = "A.B. McKie and A. Al-Saedi and J. Vogt 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.W. and S.M. Park and \{van der Smagt\}, J.J. and M. Bugiani and ER Maher",

year = "2014",

language = "Undefined/Unknown",

volume = "2",

pages = "148",

journal = "Acta Neuropathologica Communications [E]",

issn = "2051-5960",

publisher = "BioMed Central Ltd.",

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}

McKie, AB, Al-Saedi, A, Vogt, J, Stuurman, KE, Weiss, MM, Shakeel, H, Tee, L, Morgan, NV, Nikkels, PGJ , van Haaften, GW, 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 Communications [E], vol. 2, no. 1, pp. 148. <http://www.ncbi.nlm.nih.gov/pubmed/25476234>

TY - JOUR

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

AU - McKie, A.B.

AU - Al-Saedi, A.

AU - 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.W.

AU - Park, S.M.

AU - van der Smagt, J.J.

AU - Bugiani, M.

AU - Maher, ER

PY - 2014

Y1 - 2014

M3 - Article

SN - 2051-5960

VL - 2

SP - 148

JO - Acta Neuropathologica Communications [E]

JF - Acta Neuropathologica Communications [E]

IS - 1

ER -