Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease

M.J. Stasia; M. Mollin; C. Martel; V. Satre; C. Coutton; F. Amblard; G. Vieville; J.M. van Montfrans; J.J. Boelens; H.E. Veenstra-Knol; K. Van Leeuwen; M. de Boer; J.P. Brion; D. Roos

doi:10.1038/ejhg.2012.310

Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease

M.J. Stasia, M. Mollin, C. Martel, V. Satre, C. Coutton, F. Amblard, G. Vieville, J.M. van Montfrans, J.J. Boelens, H.E. Veenstra-Knol, K. Van Leeuwen, M. de Boer, J.P. Brion, D. Roos

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

Original language	English
Pages (from-to)	1079-1084
Number of pages	5
Journal	European Journal of Human Genetics
Volume	21
Issue number	10
DOIs	https://doi.org/10.1038/ejhg.2012.310
Publication status	Published - 2013

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10.1038/ejhg.2012.310

http://www.nature.com/ejhg/journal/v21/n10/full/ejhg2012310a.html

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Stasia, M. J., Mollin, M., Martel, C., Satre, V., Coutton, C., Amblard, F., Vieville, G., van Montfrans, J. M., Boelens, J. J., Veenstra-Knol, H. E., Van Leeuwen, K., de Boer, M., Brion, J. P., & Roos, D. (2013). Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease. European Journal of Human Genetics, 21(10), 1079-1084. https://doi.org/10.1038/ejhg.2012.310

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title = "Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease",

author = "M.J. Stasia and M. Mollin and C. Martel and V. Satre and C. Coutton and F. Amblard and G. Vieville and {van Montfrans}, J.M. and J.J. Boelens and H.E. Veenstra-Knol and {Van Leeuwen}, K. and {de Boer}, M. and J.P. Brion and D. Roos",

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Stasia, MJ, Mollin, M, Martel, C, Satre, V, Coutton, C, Amblard, F, Vieville, G, van Montfrans, JM, Boelens, JJ, Veenstra-Knol, HE, Van Leeuwen, K, de Boer, M, Brion, JP & Roos, D 2013, 'Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease', European Journal of Human Genetics, vol. 21, no. 10, pp. 1079-1084. https://doi.org/10.1038/ejhg.2012.310

TY - JOUR

T1 - Functional and genetic characterization of two extremely rare cases of Williams-Beuren syndrome associated with chronic granulomatous disease

AU - Stasia, M.J.

AU - Mollin, M.

AU - Martel, C.

AU - Satre, V.

AU - Coutton, C.

AU - Amblard, F.

AU - Vieville, G.

AU - van Montfrans, J.M.

AU - Boelens, J.J.

AU - Veenstra-Knol, H.E.

AU - Van Leeuwen, K.

AU - de Boer, M.

AU - Brion, J.P.

AU - Roos, D.

PY - 2013

Y1 - 2013

U2 - 10.1038/ejhg.2012.310

DO - 10.1038/ejhg.2012.310

M3 - Article

C2 - 23340515

SN - 1018-4813

VL - 21

SP - 1079

EP - 1084

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 10

ER -