Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

B.L. Callewaert; B.L. Loeys; A. Ficcadenti; S. Vermeer; M. Landgren; H.Y. Kroes; Y. Yaron; M. Pope; N. Foulds; O. Boute; F. Galan; H. Kingston; Nathalie van der Aa; I. Salcedo; M.E.M. Swinkels; X et al.

Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

Translated title of the contribution: Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

B.L. Callewaert
, B.L. Loeys
, A. Ficcadenti
, S. Vermeer
, M. Landgren
, H.Y. Kroes
, Y. Yaron
, M. Pope
, N. Foulds
, O. Boute
, F. Galan
, H. Kingston
, Nathalie van der Aa
, I. Salcedo
, M.E.M. Swinkels
, X et al.

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

Translated title of the contribution	Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature
Original language	Undefined/Unknown
Pages (from-to)	334-341
Number of pages	8
Journal	Human Mutation
Volume	30
Issue number	3
Publication status	Published - 2009

Keywords

Econometric and Statistical Methods: General
Geneeskunde(GENK)

Cite this

Callewaert, B. L., Loeys, B. L., Ficcadenti, A., Vermeer, S., Landgren, M., Kroes, H. Y., Yaron, Y., Pope, M., Foulds, N., Boute, O., Galan, F., Kingston, H., van der Aa, N., Salcedo, I., Swinkels, M. E. M., & et al., X. (2009). Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature. Human Mutation, 30(3), 334-341.

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author = "B.L. Callewaert and B.L. Loeys and A. Ficcadenti and S. Vermeer and M. Landgren and H.Y. Kroes and Y. Yaron and M. Pope and N. Foulds and O. Boute and F. Galan and H. Kingston and \{van der Aa\}, Nathalie and I. Salcedo and M.E.M. Swinkels and \{et al.\}, X",

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journal = "Human Mutation",

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Callewaert, BL, Loeys, BL, Ficcadenti, A, Vermeer, S, Landgren, M, Kroes, HY, Yaron, Y, Pope, M, Foulds, N, Boute, O, Galan, F, Kingston, H, van der Aa, N, Salcedo, I, Swinkels, MEM & et al., X 2009, 'Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature', Human Mutation, vol. 30, no. 3, pp. 334-341.

TY - JOUR

T1 - Comprehensive clinical and molecular assessment of 32 probands with congenital contractural arachnodactyly: report of 14 novel mutations and review of the literature

AU - Callewaert, B.L.

AU - Loeys, B.L.

AU - Ficcadenti, A.

AU - Vermeer, S.

AU - Landgren, M.

AU - Kroes, H.Y.

AU - Yaron, Y.

AU - Pope, M.

AU - Foulds, N.

AU - Boute, O.

AU - Galan, F.

AU - Kingston, H.

AU - van der Aa, Nathalie

AU - Salcedo, I.

AU - Swinkels, M.E.M.

AU - et al., X

PY - 2009

Y1 - 2009

KW - Econometric and Statistical Methods: General

KW - Geneeskunde(GENK)

M3 - Article

SN - 1059-7794

VL - 30

SP - 334

EP - 341

JO - Human Mutation

JF - Human Mutation

IS - 3

ER -