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

M.E.C. Meuwissen; D.J.J. Halley; L.S. Smit; M.H. Lequin; J.M. Cobben; R. de Coo; J. van Harssel; S. Sallevelt; G. Woldringh; M.S. van der Knaap; L.S. de Vries; G.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

M.E.C. Meuwissen, D.J.J. Halley, L.S. Smit, M.H. Lequin, J.M. Cobben, R. de Coo, J. van Harssel, S. Sallevelt, G. Woldringh, M.S. van der Knaap, L.S. de Vries, G.M.S. Mancini

Pediatric surgery

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

Original language	Undefined/Unknown
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 - 2015

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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

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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

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AU - Meuwissen, M.E.C.

AU - Halley, D.J.J.

AU - Smit, L.S.

AU - Lequin, M.H.

AU - Cobben, J.M.

AU - de Coo, R.

AU - van Harssel, J.

AU - Sallevelt, S.

AU - Woldringh, G.

AU - van der Knaap, M.S.

AU - de Vries, L.S.

AU - Mancini, G.M.S.

PY - 2015

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DO - 10.1038/gim.2014.210

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SN - 1098-3600

VL - 17

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JO - Genetics in Medicine

JF - Genetics in Medicine

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