Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Nicol C. Voermans; Tjitske Kleefstra; Anneke A. Gabreëls-Festen; Brigitte H. W. Faas; Erik-Jan Kamsteeg; Henry Houlden; Matilde Laurá; James M. Polke; Amelie Pandraud; Fred van Ruissen; Baziel G. van Engelen; Mary M. Reilly

doi:https://doi.org/10.1111/j.1529-8027.2012.00402.x

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

Nicol C. Voermans, Tjitske Kleefstra, Anneke A. Gabreëls-Festen, Brigitte H. W. Faas, Erik-Jan Kamsteeg, Henry Houlden, Matilde Laurá, James M. Polke, Amelie Pandraud, Fred van Ruissen, Baziel G. van Engelen, Mary M. Reilly

Research output: Contribution to journal › Comment/Letter to the editor › Academic

1 Citation (Scopus)

Original language	English
Pages (from-to)	223-225
Journal	Journal of the peripheral nervous system
Volume	17
Issue number	2
DOIs	https://doi.org/10.1111/j.1529-8027.2012.00402.x
Publication status	Published - 2012

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https://doi.org/10.1111/j.1529-8027.2012.00402.x

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Voermans, N. C., Kleefstra, T., Gabreëls-Festen, A. A., Faas, B. H. W., Kamsteeg, E.-J., Houlden, H., Laurá, M., Polke, J. M., Pandraud, A., van Ruissen, F., van Engelen, B. G., & Reilly, M. M. (2012). Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. Journal of the peripheral nervous system, 17(2), 223-225. https://doi.org/10.1111/j.1529-8027.2012.00402.x

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title = "Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion",

author = "Voermans, {Nicol C.} and Tjitske Kleefstra and Gabre{\"e}ls-Festen, {Anneke A.} and Faas, {Brigitte H. W.} and Erik-Jan Kamsteeg and Henry Houlden and Matilde Laur{\'a} and Polke, {James M.} and Amelie Pandraud and {van Ruissen}, Fred and {van Engelen}, {Baziel G.} and Reilly, {Mary M.}",

year = "2012",

doi = "https://doi.org/10.1111/j.1529-8027.2012.00402.x",

language = "English",

volume = "17",

pages = "223--225",

journal = "Journal of the peripheral nervous system",

issn = "1085-9489",

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Voermans, NC, Kleefstra, T, Gabreëls-Festen, AA, Faas, BHW, Kamsteeg, E-J, Houlden, H, Laurá, M, Polke, JM, Pandraud, A, van Ruissen, F, van Engelen, BG & Reilly, MM 2012, 'Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion', Journal of the peripheral nervous system, vol. 17, no. 2, pp. 223-225. https://doi.org/10.1111/j.1529-8027.2012.00402.x

Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion. / Voermans, Nicol C.; Kleefstra, Tjitske; Gabreëls-Festen, Anneke A. et al.
In: Journal of the peripheral nervous system, Vol. 17, No. 2, 2012, p. 223-225.

Research output: Contribution to journal › Comment/Letter to the editor › Academic

TY - JOUR

T1 - Severe Dejerine-Sottas disease with respiratory failure and dysmorphic features in association with a PMP22 point mutation and a 3q23 microdeletion

AU - Voermans, Nicol C.

AU - Kleefstra, Tjitske

AU - Gabreëls-Festen, Anneke A.

AU - Faas, Brigitte H. W.

AU - Kamsteeg, Erik-Jan

AU - Houlden, Henry

AU - Laurá, Matilde

AU - Polke, James M.

AU - Pandraud, Amelie

AU - van Ruissen, Fred

AU - van Engelen, Baziel G.

AU - Reilly, Mary M.

PY - 2012

Y1 - 2012

U2 - https://doi.org/10.1111/j.1529-8027.2012.00402.x

DO - https://doi.org/10.1111/j.1529-8027.2012.00402.x

M3 - Comment/Letter to the editor

C2 - 22734911

SN - 1085-9489

VL - 17

SP - 223

EP - 225

JO - Journal of the peripheral nervous system

JF - Journal of the peripheral nervous system

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ER -