Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

S. Allali; C. Le Goff; I. Pressac-Diebold; G. Pfennig; C. Mahaut; N. Dagoneau; Y. Alanay; A.F. Brady; Y.J. Crow; K. Devriendt; V. Drouin-Garraud; E. Flori; D. Geneviève; R.C. Hennekam; J. Hurst; D. Krakow; M. Le Merrer; K.D. Lichtenbelt; S.A. Lynch; s. Lyonnet; K. MacDermot; S. Mansour; A. Megarbané; H.G. Santos; M. Splitt; A. Superti-Furga; S. Unger; D. Williams; A. Munnich; V. Cormier-Daire

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Translated title of the contribution: Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

S. Allali
, C. Le Goff
, I. Pressac-Diebold
, G. Pfennig
, C. Mahaut
, N. Dagoneau
, Y. Alanay
, A.F. Brady
, Y.J. Crow
, K. Devriendt
, V. Drouin-Garraud
, E. Flori
, D. Geneviève
, R.C. Hennekam
, J. Hurst
, D. Krakow
, M. Le Merrer
, K.D. Lichtenbelt
, S.A. Lynch
, s. Lyonnet

K. MacDermot, S. Mansour, A. Megarbané, H.G. Santos, M. Splitt, A. Superti-Furga, S. Unger, D. Williams, A. Munnich, V. Cormier-Daire

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

Translated title of the contribution	Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia
Original language	Undefined/Unknown
Pages (from-to)	417-421
Number of pages	5
Journal	Journal of Medical Genetics
Volume	48
Issue number	6
Publication status	Published - 2011

Cite this

Allali, S., Le Goff, C., Pressac-Diebold, I., Pfennig, G., Mahaut, C., Dagoneau, N., Alanay, Y., Brady, A. F., Crow, Y. J., Devriendt, K., Drouin-Garraud, V., Flori, E., Geneviève, D., Hennekam, R. C., Hurst, J., Krakow, D., Le Merrer, M., Lichtenbelt, K. D., Lynch, S. A., ... Cormier-Daire, V. (2011). Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia. Journal of Medical Genetics, 48(6), 417-421.

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title = "Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia",

author = "S. Allali and \{Le Goff\}, C. and I. Pressac-Diebold and G. Pfennig and C. Mahaut and N. Dagoneau and Y. Alanay and A.F. Brady and Y.J. Crow and K. Devriendt and V. Drouin-Garraud and E. Flori and D. Genevi{\`e}ve and R.C. Hennekam and J. Hurst and D. Krakow and \{Le Merrer\}, M. and K.D. Lichtenbelt and S.A. Lynch and s. Lyonnet and K. MacDermot and S. Mansour and A. Megarban{\'e} and H.G. Santos and M. Splitt and A. Superti-Furga and S. Unger and D. Williams and A. Munnich and V. Cormier-Daire",

year = "2011",

language = "Undefined/Unknown",

volume = "48",

pages = "417--421",

journal = "Journal of Medical Genetics",

issn = "0022-2593",

publisher = "BMJ Publishing Group",

number = "6",

}

Allali, S, Le Goff, C, Pressac-Diebold, I, Pfennig, G, Mahaut, C, Dagoneau, N, Alanay, Y, Brady, AF, Crow, YJ, Devriendt, K, Drouin-Garraud, V, Flori, E, Geneviève, D, Hennekam, RC, Hurst, J, Krakow, D, Le Merrer, M, Lichtenbelt, KD, Lynch, SA, Lyonnet, S, MacDermot, K, Mansour, S, Megarbané, A, Santos, HG, Splitt, M, Superti-Furga, A, Unger, S, Williams, D, Munnich, A & Cormier-Daire, V 2011, 'Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia', Journal of Medical Genetics, vol. 48, no. 6, pp. 417-421.

TY - JOUR

T1 - Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

AU - Allali, S.

AU - Le Goff, C.

AU - Pressac-Diebold, I.

AU - Pfennig, G.

AU - Mahaut, C.

AU - Dagoneau, N.

AU - Alanay, Y.

AU - Brady, A.F.

AU - Crow, Y.J.

AU - Devriendt, K.

AU - Drouin-Garraud, V.

AU - Flori, E.

AU - Geneviève, D.

AU - Hennekam, R.C.

AU - Hurst, J.

AU - Krakow, D.

AU - Le Merrer, M.

AU - Lichtenbelt, K.D.

AU - Lynch, S.A.

AU - Lyonnet, s.

AU - MacDermot, K.

AU - Mansour, S.

AU - Megarbané, A.

AU - Santos, H.G.

AU - Splitt, M.

AU - Superti-Furga, A.

AU - Unger, S.

AU - Williams, D.

AU - Munnich, A.

AU - Cormier-Daire, V.

PY - 2011

Y1 - 2011

M3 - Article

SN - 0022-2593

VL - 48

SP - 417

EP - 421

JO - Journal of Medical Genetics

JF - Journal of Medical Genetics

IS - 6

ER -