Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

A. Putoux; A. Alqahtani; L. Pinson; A. D. C. Paulussen; J. Michel; A. Besson; S. Mazoyer; I. Borg; S. Nampoothiri; A. Vasiljevic; A. Uwineza; D. Boggio; F. Champion; C. E. de Die-Smulders; T. Gardeitchik; W. K. van Putten; M. J. Perez; Y. Musizzano; F. Razavi; S. Drunat; A. Verloes; R. Hennekam; L. Guibaud; E. Alix; D. Sanlaville; G. Lesca; P. Edery

doi:10.1111/cge.12781

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome

A. Putoux^*, A. Alqahtani, L. Pinson, A. D. C. Paulussen, J. Michel, A. Besson, S. Mazoyer, I. Borg, S. Nampoothiri, A. Vasiljevic, A. Uwineza, D. Boggio, F. Champion, C. E. de Die-Smulders, T. Gardeitchik, W. K. van Putten, M. J. Perez, Y. Musizzano, F. Razavi, S. DrunatA. Verloes, R. Hennekam, L. Guibaud, E. Alix, D. Sanlaville, G. Lesca, P. Edery

^*Corresponding author for this work

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

8 Citations (Web of Science)

Original language	English
Pages (from-to)	550-555
Journal	Clinical Genetics
Volume	90
Issue number	6
DOIs	https://doi.org/10.1111/cge.12781
Publication status	Published - Dec 2016

Keywords

corpus callosum agenesis
dwarfism
microcephalic osteodysplastic primordial dwarfisms
microcephaly
RNU4ATAC
spliceosome
Taybi-Linder syndrome

Access to Document

10.1111/cge.12781

Cite this

Putoux, A., Alqahtani, A., Pinson, L., Paulussen, A. D. C., Michel, J., Besson, A., Mazoyer, S., Borg, I., Nampoothiri, S., Vasiljevic, A., Uwineza, A., Boggio, D., Champion, F., de Die-Smulders, C. E., Gardeitchik, T., van Putten, W. K., Perez, M. J., Musizzano, Y., Razavi, F., ... Edery, P. (2016). Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. Clinical Genetics, 90(6), 550-555. https://doi.org/10.1111/cge.12781

Putoux, A. ; Alqahtani, A. ; Pinson, L. ; Paulussen, A. D. C. ; Michel, J. ; Besson, A. ; Mazoyer, S. ; Borg, I. ; Nampoothiri, S. ; Vasiljevic, A. ; Uwineza, A. ; Boggio, D. ; Champion, F. ; de Die-Smulders, C. E. ; Gardeitchik, T. ; van Putten, W. K. ; Perez, M. J. ; Musizzano, Y. ; Razavi, F. ; Drunat, S. ; Verloes, A. ; Hennekam, R. ; Guibaud, L. ; Alix, E. ; Sanlaville, D. ; Lesca, G. ; Edery, P. / Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. In: Clinical Genetics. 2016 ; Vol. 90, No. 6. pp. 550-555.

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title = "Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome",

keywords = "corpus callosum agenesis, dwarfism, microcephalic osteodysplastic primordial dwarfisms, microcephaly, RNU4ATAC, spliceosome, Taybi-Linder syndrome",

author = "A. Putoux and A. Alqahtani and L. Pinson and Paulussen, {A. D. C.} and J. Michel and A. Besson and S. Mazoyer and I. Borg and S. Nampoothiri and A. Vasiljevic and A. Uwineza and D. Boggio and F. Champion and {de Die-Smulders}, {C. E.} and T. Gardeitchik and {van Putten}, {W. K.} and Perez, {M. J.} and Y. Musizzano and F. Razavi and S. Drunat and A. Verloes and R. Hennekam and L. Guibaud and E. Alix and D. Sanlaville and G. Lesca and P. Edery",

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doi = "10.1111/cge.12781",

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Putoux, A, Alqahtani, A, Pinson, L, Paulussen, ADC, Michel, J, Besson, A, Mazoyer, S, Borg, I, Nampoothiri, S, Vasiljevic, A, Uwineza, A, Boggio, D, Champion, F, de Die-Smulders, CE, Gardeitchik, T, van Putten, WK, Perez, MJ, Musizzano, Y, Razavi, F, Drunat, S, Verloes, A, Hennekam, R, Guibaud, L, Alix, E, Sanlaville, D, Lesca, G & Edery, P 2016, 'Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome', Clinical Genetics, vol. 90, no. 6, pp. 550-555. https://doi.org/10.1111/cge.12781

Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome. / Putoux, A.; Alqahtani, A.; Pinson, L.; Paulussen, A. D. C.; Michel, J.; Besson, A.; Mazoyer, S.; Borg, I.; Nampoothiri, S.; Vasiljevic, A.; Uwineza, A.; Boggio, D.; Champion, F.; de Die-Smulders, C. E.; Gardeitchik, T.; van Putten, W. K.; Perez, M. J.; Musizzano, Y.; Razavi, F.; Drunat, S.; Verloes, A.; Hennekam, R.; Guibaud, L.; Alix, E.; Sanlaville, D.; Lesca, G.; Edery, P.

In: Clinical Genetics, Vol. 90, No. 6, 12.2016, p. 550-555.

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

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AU - Putoux, A.

AU - Alqahtani, A.

AU - Pinson, L.

AU - Paulussen, A. D. C.

AU - Michel, J.

AU - Besson, A.

AU - Mazoyer, S.

AU - Borg, I.

AU - Nampoothiri, S.

AU - Vasiljevic, A.

AU - Uwineza, A.

AU - Boggio, D.

AU - Champion, F.

AU - de Die-Smulders, C. E.

AU - Gardeitchik, T.

AU - van Putten, W. K.

AU - Perez, M. J.

AU - Musizzano, Y.

AU - Razavi, F.

AU - Drunat, S.

AU - Verloes, A.

AU - Hennekam, R.

AU - Guibaud, L.

AU - Alix, E.

AU - Sanlaville, D.

AU - Lesca, G.

AU - Edery, P.

PY - 2016/12

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KW - corpus callosum agenesis

KW - dwarfism

KW - microcephalic osteodysplastic primordial dwarfisms

KW - microcephaly

KW - RNU4ATAC

KW - spliceosome

KW - Taybi-Linder syndrome

U2 - 10.1111/cge.12781

DO - 10.1111/cge.12781

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VL - 90

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