OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels

C. Huber; M. Fradin; T. Edouard; M. Le Merrer; Y. Alanay; D.B. Da Silva; A. David; H. Hamamy; L.P. van Hest; A.M. Lund; J. Michaud; C. Oley; C. Patel; A. Rajab; D.L. Skidmore; H. Stewart; M. Tauber; A. Munnich; V. Cormier-Daire

doi:10.1002/humu.21150

OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels

C. Huber, M. Fradin, T. Edouard, M. Le Merrer, Y. Alanay, D.B. Da Silva, A. David, H. Hamamy, L.P. van Hest, A.M. Lund, J. Michaud, C. Oley, C. Patel, A. Rajab, D.L. Skidmore, H. Stewart, M. Tauber, A. Munnich, V. Cormier-Daire

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

Original language	Undefined/Unknown
Pages (from-to)	20-26
Journal	Human Mutation
Volume	31
Issue number	1
DOIs	https://doi.org/10.1002/humu.21150
Publication status	Published - 2010

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10.1002/humu.21150

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Huber, C., Fradin, M., Edouard, T., Le Merrer, M., Alanay, Y., Da Silva, D. B., David, A., Hamamy, H., van Hest, L. P., Lund, A. M., Michaud, J., Oley, C., Patel, C., Rajab, A., Skidmore, D. L., Stewart, H., Tauber, M., Munnich, A., & Cormier-Daire, V. (2010). OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels. Human Mutation, 31(1), 20-26. https://doi.org/10.1002/humu.21150

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title = "OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels",

author = "C. Huber and M. Fradin and T. Edouard and {Le Merrer}, M. and Y. Alanay and {Da Silva}, D.B. and A. David and H. Hamamy and {van Hest}, L.P. and A.M. Lund and J. Michaud and C. Oley and C. Patel and A. Rajab and D.L. Skidmore and H. Stewart and M. Tauber and A. Munnich and V. Cormier-Daire",

year = "2010",

doi = "10.1002/humu.21150",

language = "Undefined/Unknown",

volume = "31",

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Huber, C, Fradin, M, Edouard, T, Le Merrer, M, Alanay, Y, Da Silva, DB, David, A, Hamamy, H, van Hest, LP, Lund, AM, Michaud, J, Oley, C, Patel, C, Rajab, A, Skidmore, DL, Stewart, H, Tauber, M, Munnich, A & Cormier-Daire, V 2010, 'OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels', Human Mutation, vol. 31, no. 1, pp. 20-26. https://doi.org/10.1002/humu.21150

TY - JOUR

T1 - OBSL1 Mutations in 3-M Syndrome are Associated With a Modulation of IGFBP2 and IGFBP5 Expression Levels

AU - Huber, C.

AU - Fradin, M.

AU - Edouard, T.

AU - Le Merrer, M.

AU - Alanay, Y.

AU - Da Silva, D.B.

AU - David, A.

AU - Hamamy, H.

AU - van Hest, L.P.

AU - Lund, A.M.

AU - Michaud, J.

AU - Oley, C.

AU - Patel, C.

AU - Rajab, A.

AU - Skidmore, D.L.

AU - Stewart, H.

AU - Tauber, M.

AU - Munnich, A.

AU - Cormier-Daire, V.

PY - 2010

Y1 - 2010

U2 - 10.1002/humu.21150

DO - 10.1002/humu.21150

M3 - Article

C2 - 19877176

SN - 1059-7794

VL - 31

SP - 20

EP - 26

JO - Human Mutation

JF - Human Mutation

IS - 1

ER -