The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Marije E. C. Meuwissen; Dicky J. J. Halley; Liesbeth S. Smit; Maarten H. Lequin; Jan M. Cobben; Rene de Coo; Jeske van Harssel; Suzanne Sallevelt; Gwendolyn Woldringh; Marjo S. van der Knaap; Linda S. de Vries; Grazia M. S. Mancini

doi:10.1038/gim.2014.210

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

Marije E. C. Meuwissen, Dicky J. J. Halley, Liesbeth S. Smit, Maarten H. Lequin, Jan M. Cobben, Rene de Coo, Jeske van Harssel, Suzanne Sallevelt, Gwendolyn Woldringh, Marjo S. van der Knaap, Linda S. de Vries, Grazia M. S. Mancini^*

^*Corresponding author for this work

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

Original language	English
Pages (from-to)	843-853
Journal	Genetics in Medicine
Volume	17
Issue number	11
DOIs	https://doi.org/10.1038/gim.2014.210
Publication status	Published - Nov 2015

Keywords

cerebral hemorrhage
COL4A1
COL4A2
familial porencephaly
phenotype

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10.1038/gim.2014.210

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Meuwissen, M. E. C., Halley, D. J. J., Smit, L. S., Lequin, M. H., Cobben, J. M., de Coo, R., van Harssel, J., Sallevelt, S., Woldringh, G., van der Knaap, M. S., de Vries, L. S., & Mancini, G. M. S. (2015). The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. Genetics in Medicine, 17(11), 843-853. https://doi.org/10.1038/gim.2014.210

Meuwissen, Marije E. C. ; Halley, Dicky J. J. ; Smit, Liesbeth S. ; Lequin, Maarten H. ; Cobben, Jan M. ; de Coo, Rene ; van Harssel, Jeske ; Sallevelt, Suzanne ; Woldringh, Gwendolyn ; van der Knaap, Marjo S. ; de Vries, Linda S. ; Mancini, Grazia M. S. / The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. In: Genetics in Medicine. 2015 ; Vol. 17, No. 11. pp. 843-853.

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title = "The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature",

keywords = "cerebral hemorrhage, COL4A1, COL4A2, familial porencephaly, phenotype",

author = "Meuwissen, {Marije E. C.} and Halley, {Dicky J. J.} and Smit, {Liesbeth S.} and Lequin, {Maarten H.} and Cobben, {Jan M.} and {de Coo}, Rene and {van Harssel}, Jeske and Suzanne Sallevelt and Gwendolyn Woldringh and {van der Knaap}, {Marjo S.} and {de Vries}, {Linda S.} and Mancini, {Grazia M. S.}",

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doi = "10.1038/gim.2014.210",

language = "English",

volume = "17",

pages = "843--853",

journal = "Genetics in Medicine",

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Meuwissen, MEC, Halley, DJJ, Smit, LS, Lequin, MH, Cobben, JM, de Coo, R, van Harssel, J, Sallevelt, S, Woldringh, G, van der Knaap, MS, de Vries, LS & Mancini, GMS 2015, 'The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature', Genetics in Medicine, vol. 17, no. 11, pp. 843-853. https://doi.org/10.1038/gim.2014.210

The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature. / Meuwissen, Marije E. C.; Halley, Dicky J. J.; Smit, Liesbeth S.; Lequin, Maarten H.; Cobben, Jan M.; de Coo, Rene; van Harssel, Jeske; Sallevelt, Suzanne; Woldringh, Gwendolyn; van der Knaap, Marjo S.; de Vries, Linda S.; Mancini, Grazia M. S.

In: Genetics in Medicine, Vol. 17, No. 11, 11.2015, p. 843-853.

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

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T1 - The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature

AU - Meuwissen, Marije E. C.

AU - Halley, Dicky J. J.

AU - Smit, Liesbeth S.

AU - Lequin, Maarten H.

AU - Cobben, Jan M.

AU - de Coo, Rene

AU - van Harssel, Jeske

AU - Sallevelt, Suzanne

AU - Woldringh, Gwendolyn

AU - van der Knaap, Marjo S.

AU - de Vries, Linda S.

AU - Mancini, Grazia M. S.

PY - 2015/11

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KW - cerebral hemorrhage

KW - COL4A1

KW - COL4A2

KW - familial porencephaly

KW - phenotype

U2 - 10.1038/gim.2014.210

DO - 10.1038/gim.2014.210

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VL - 17

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JO - Genetics in Medicine

JF - Genetics in Medicine

SN - 1098-3600

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