The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Aimee D. C. Paulussen; Constance T. R. M. Schrander-Stumpel; Demis C. J. Tserpelis; Matteus K. M. Spee; Alexander P. A. Stegmann; Grazia M. S. Mancini; Alice S. Brooks; Margriet J. Collee; Anneke Maat-Kievit; Marleen E. H. Simon; Yolande van Bever; Irene Stolte-Dijkstra; Wilhelmina S. Kerstjens-Frederikse; Johanna C. Herkert; Anthonie J. van Essen; Klaske D. Lichtenbelt; Arie van Haeringen; Mei L. Kwee; Augusta M. A. Lachmeijer; Gita M. B. Tan-Sindhunata; Merel C. van Maarle; Yvonne H. J. M. Arens; Eric E. J. G. L. Smeets; Christine E. M. de Die-Smulders; John J. M. Engelen; Hubertus J. M. Smeets; Jos Herbergs

doi:10.1038/ejhg.2010.70

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

Aimee D. C. Paulussen^*, Constance T. R. M. Schrander-Stumpel, Demis C. J. Tserpelis, Matteus K. M. Spee, Alexander P. A. Stegmann, Grazia M. S. Mancini, Alice S. Brooks, Margriet J. Collee, Anneke Maat-Kievit, Marleen E. H. Simon, Yolande van Bever, Irene Stolte-Dijkstra, Wilhelmina S. Kerstjens-Frederikse, Johanna C. Herkert, Anthonie J. van Essen, Klaske D. Lichtenbelt, Arie van Haeringen, Mei L. Kwee, Augusta M. A. Lachmeijer, Gita M. B. Tan-SindhunataMerel C. van Maarle, Yvonne H. J. M. Arens, Eric E. J. G. L. Smeets, Christine E. M. de Die-Smulders, John J. M. Engelen, Hubertus J. M. Smeets, Jos Herbergs

^*Corresponding author for this work

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

29 Citations (Web of Science)

Original language	English
Pages (from-to)	999-1005
Journal	European Journal of Human Genetics
Volume	18
Issue number	9
DOIs	https://doi.org/10.1038/ejhg.2010.70
Publication status	Published - 10 Sep 2010

Keywords

Holoprosencephaly
SHH
SIX3
ZIC2
TGIF
genotype-phenotype

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10.1038/ejhg.2010.70

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Paulussen, A. D. C., Schrander-Stumpel, C. T. R. M., Tserpelis, D. C. J., Spee, M. K. M., Stegmann, A. P. A., Mancini, G. M. S., Brooks, A. S., Collee, M. J., Maat-Kievit, A., Simon, M. E. H., van Bever, Y., Stolte-Dijkstra, I., Kerstjens-Frederikse, W. S., Herkert, J. C., van Essen, A. J., Lichtenbelt, K. D., van Haeringen, A., Kwee, M. L., Lachmeijer, A. M. A., ... Herbergs, J. (2010). The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. European Journal of Human Genetics, 18(9), 999-1005. https://doi.org/10.1038/ejhg.2010.70

Paulussen, Aimee D. C. ; Schrander-Stumpel, Constance T. R. M. ; Tserpelis, Demis C. J. ; Spee, Matteus K. M. ; Stegmann, Alexander P. A. ; Mancini, Grazia M. S. ; Brooks, Alice S. ; Collee, Margriet J. ; Maat-Kievit, Anneke ; Simon, Marleen E. H. ; van Bever, Yolande ; Stolte-Dijkstra, Irene ; Kerstjens-Frederikse, Wilhelmina S. ; Herkert, Johanna C. ; van Essen, Anthonie J. ; Lichtenbelt, Klaske D. ; van Haeringen, Arie ; Kwee, Mei L. ; Lachmeijer, Augusta M. A. ; Tan-Sindhunata, Gita M. B. ; van Maarle, Merel C. ; Arens, Yvonne H. J. M. ; Smeets, Eric E. J. G. L. ; de Die-Smulders, Christine E. M. ; Engelen, John J. M. ; Smeets, Hubertus J. M. ; Herbergs, Jos. / The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. In: European Journal of Human Genetics. 2010 ; Vol. 18, No. 9. pp. 999-1005.

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author = "Paulussen, {Aimee D. C.} and Schrander-Stumpel, {Constance T. R. M.} and Tserpelis, {Demis C. J.} and Spee, {Matteus K. M.} and Stegmann, {Alexander P. A.} and Mancini, {Grazia M. S.} and Brooks, {Alice S.} and Collee, {Margriet J.} and Anneke Maat-Kievit and Simon, {Marleen E. H.} and {van Bever}, Yolande and Irene Stolte-Dijkstra and Kerstjens-Frederikse, {Wilhelmina S.} and Herkert, {Johanna C.} and {van Essen}, {Anthonie J.} and Lichtenbelt, {Klaske D.} and {van Haeringen}, Arie and Kwee, {Mei L.} and Lachmeijer, {Augusta M. A.} and Tan-Sindhunata, {Gita M. B.} and {van Maarle}, {Merel C.} and Arens, {Yvonne H. J. M.} and Smeets, {Eric E. J. G. L.} and {de Die-Smulders}, {Christine E. M.} and Engelen, {John J. M.} and Smeets, {Hubertus J. M.} and Jos Herbergs",

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Paulussen, ADC, Schrander-Stumpel, CTRM, Tserpelis, DCJ, Spee, MKM, Stegmann, APA, Mancini, GMS, Brooks, AS, Collee, MJ, Maat-Kievit, A, Simon, MEH, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, WS, Herkert, JC, van Essen, AJ, Lichtenbelt, KD, van Haeringen, A, Kwee, ML, Lachmeijer, AMA, Tan-Sindhunata, GMB, van Maarle, MC, Arens, YHJM, Smeets, EEJGL, de Die-Smulders, CEM, Engelen, JJM, Smeets, HJM & Herbergs, J 2010, 'The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes', European Journal of Human Genetics, vol. 18, no. 9, pp. 999-1005. https://doi.org/10.1038/ejhg.2010.70

The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes. / Paulussen, Aimee D. C.; Schrander-Stumpel, Constance T. R. M.; Tserpelis, Demis C. J.; Spee, Matteus K. M.; Stegmann, Alexander P. A.; Mancini, Grazia M. S.; Brooks, Alice S.; Collee, Margriet J.; Maat-Kievit, Anneke; Simon, Marleen E. H.; van Bever, Yolande; Stolte-Dijkstra, Irene; Kerstjens-Frederikse, Wilhelmina S.; Herkert, Johanna C.; van Essen, Anthonie J.; Lichtenbelt, Klaske D.; van Haeringen, Arie; Kwee, Mei L.; Lachmeijer, Augusta M. A.; Tan-Sindhunata, Gita M. B.; van Maarle, Merel C.; Arens, Yvonne H. J. M.; Smeets, Eric E. J. G. L.; de Die-Smulders, Christine E. M.; Engelen, John J. M.; Smeets, Hubertus J. M.; Herbergs, Jos.

In: European Journal of Human Genetics, Vol. 18, No. 9, 10.09.2010, p. 999-1005.

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

TY - JOUR

T1 - The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

AU - Paulussen, Aimee D. C.

AU - Schrander-Stumpel, Constance T. R. M.

AU - Tserpelis, Demis C. J.

AU - Spee, Matteus K. M.

AU - Stegmann, Alexander P. A.

AU - Mancini, Grazia M. S.

AU - Brooks, Alice S.

AU - Collee, Margriet J.

AU - Maat-Kievit, Anneke

AU - Simon, Marleen E. H.

AU - van Bever, Yolande

AU - Stolte-Dijkstra, Irene

AU - Kerstjens-Frederikse, Wilhelmina S.

AU - Herkert, Johanna C.

AU - van Essen, Anthonie J.

AU - Lichtenbelt, Klaske D.

AU - van Haeringen, Arie

AU - Kwee, Mei L.

AU - Lachmeijer, Augusta M. A.

AU - Tan-Sindhunata, Gita M. B.

AU - van Maarle, Merel C.

AU - Arens, Yvonne H. J. M.

AU - Smeets, Eric E. J. G. L.

AU - de Die-Smulders, Christine E. M.

AU - Engelen, John J. M.

AU - Smeets, Hubertus J. M.

AU - Herbergs, Jos

PY - 2010/9/10

Y1 - 2010/9/10

KW - Holoprosencephaly

KW - SHH

KW - SIX3

KW - ZIC2

KW - TGIF

KW - genotype-phenotype

U2 - 10.1038/ejhg.2010.70

DO - 10.1038/ejhg.2010.70

M3 - Article

C2 - 20531442

VL - 18

SP - 999

EP - 1005

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

SN - 1018-4813

IS - 9

ER -