A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

C. Huber; A.L. Delezoide; F. Guimiot; C. Baumann; V. Malan; M. Le Merrer; D.B. Da Silva; D. Bonneau; P. Chatelain; C. Chu; R. Clark; H. Cox; P. Edery; T. Edouard; V. Fano; K. Gibson; G. Gillessen-Kaesbach; M.L. Giovannucci-Uzielli; L.M. Graul-Neumann; J.M. van Hagen; L.P. van Hest; D. Horovitz; J. Melki; C.J. Partsch; H. Plauchu; A. Rajab; M. Rossi; D. Sillence; E. Steichen-Gersdorf; H. Stewart; S. Unger; M. Zenker; A. Munnich; V. Cormier-Daire

doi:https://doi.org/10.1038/ejhg.2008.200

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

C. Huber, A.L. Delezoide, F. Guimiot, C. Baumann, V. Malan, M. Le Merrer, D.B. Da Silva, D. Bonneau, P. Chatelain, C. Chu, R. Clark, H. Cox, P. Edery, T. Edouard, V. Fano, K. Gibson, G. Gillessen-Kaesbach, M.L. Giovannucci-Uzielli, L.M. Graul-Neumann, J.M. van HagenL.P. van Hest, D. Horovitz, J. Melki, C.J. Partsch, H. Plauchu, A. Rajab, M. Rossi, D. Sillence, E. Steichen-Gersdorf, H. Stewart, S. Unger, M. Zenker, A. Munnich, V. Cormier-Daire

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

41 Citations (Scopus)

Original language	Undefined/Unknown
Pages (from-to)	395-400
Journal	European journal of human genetics
Volume	17
Issue number	3
DOIs	https://doi.org/10.1038/ejhg.2008.200
Publication status	Published - 2009

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https://doi.org/10.1038/ejhg.2008.200

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Huber, C., Delezoide, A. L., Guimiot, F., Baumann, C., Malan, V., Le Merrer, M., Da Silva, D. B., Bonneau, D., Chatelain, P., Chu, C., Clark, R., Cox, H., Edery, P., Edouard, T., Fano, V., Gibson, K., Gillessen-Kaesbach, G., Giovannucci-Uzielli, M. L., Graul-Neumann, L. M., ... Cormier-Daire, V. (2009). A large-scale mutation search reveals genetic heterogeneity in 3M syndrome. European journal of human genetics, 17(3), 395-400. https://doi.org/10.1038/ejhg.2008.200

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title = "A large-scale mutation search reveals genetic heterogeneity in 3M syndrome",

author = "C. Huber and A.L. Delezoide and F. Guimiot and C. Baumann and V. Malan and {Le Merrer}, M. and {Da Silva}, D.B. and D. Bonneau and P. Chatelain and C. Chu and R. Clark and H. Cox and P. Edery and T. Edouard and V. Fano and K. Gibson and G. Gillessen-Kaesbach and M.L. Giovannucci-Uzielli and L.M. Graul-Neumann and {van Hagen}, J.M. and {van Hest}, L.P. and D. Horovitz and J. Melki and C.J. Partsch and H. Plauchu and A. Rajab and M. Rossi and D. Sillence and E. Steichen-Gersdorf and H. Stewart and S. Unger and M. Zenker and A. Munnich and V. Cormier-Daire",

year = "2009",

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Huber, C, Delezoide, AL, Guimiot, F, Baumann, C, Malan, V, Le Merrer, M, Da Silva, DB, Bonneau, D, Chatelain, P, Chu, C, Clark, R, Cox, H, Edery, P, Edouard, T, Fano, V, Gibson, K, Gillessen-Kaesbach, G, Giovannucci-Uzielli, ML, Graul-Neumann, LM, van Hagen, JM , van Hest, LP, Horovitz, D, Melki, J, Partsch, CJ, Plauchu, H, Rajab, A, Rossi, M, Sillence, D, Steichen-Gersdorf, E, Stewart, H, Unger, S, Zenker, M, Munnich, A & Cormier-Daire, V 2009, 'A large-scale mutation search reveals genetic heterogeneity in 3M syndrome', European journal of human genetics, vol. 17, no. 3, pp. 395-400. https://doi.org/10.1038/ejhg.2008.200

TY - JOUR

T1 - A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

AU - Huber, C.

AU - Delezoide, A.L.

AU - Guimiot, F.

AU - Baumann, C.

AU - Malan, V.

AU - Le Merrer, M.

AU - Da Silva, D.B.

AU - Bonneau, D.

AU - Chatelain, P.

AU - Chu, C.

AU - Clark, R.

AU - Cox, H.

AU - Edery, P.

AU - Edouard, T.

AU - Fano, V.

AU - Gibson, K.

AU - Gillessen-Kaesbach, G.

AU - Giovannucci-Uzielli, M.L.

AU - Graul-Neumann, L.M.

AU - van Hagen, J.M.

AU - van Hest, L.P.

AU - Horovitz, D.

AU - Melki, J.

AU - Partsch, C.J.

AU - Plauchu, H.

AU - Rajab, A.

AU - Rossi, M.

AU - Sillence, D.

AU - Steichen-Gersdorf, E.

AU - Stewart, H.

AU - Unger, S.

AU - Zenker, M.

AU - Munnich, A.

AU - Cormier-Daire, V.

PY - 2009

Y1 - 2009

U2 - https://doi.org/10.1038/ejhg.2008.200

DO - https://doi.org/10.1038/ejhg.2008.200

M3 - Article

C2 - 19225462

VL - 17

SP - 395

EP - 400

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 3

ER -