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

A.D. Paulussen; C.T.R.M. Schrander-Stumpel; D. Tserpelis; M.K. Spee; A.P. Stegmann; G.M. Mancini; A.S. Brooks; M. Collée; A. Maat-Kievit; M.E. Simon; Y van Bever; I. Stolte-Dijkstra; W.S. Kerstjens-Frederikse; J.C. Herkert; A.J. van Essen; K.D. Lichtenbelt; A. van Haeringen; M.L. Kwee; A.M. Lachmeijer; G.M.B. Tan-Sindhunata; M.C. van Maarle; Y.H. Arens; E.E. Smeets; C.E.M. de Die-Smulders; J.J. Engelen; H.J. Smeets; J. Herbergs

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

Translated title of the contribution: The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes

A.D. Paulussen
, C.T.R.M. Schrander-Stumpel
, D. Tserpelis
, M.K. Spee
, A.P. Stegmann
, G.M. Mancini
, A.S. Brooks
, M. Collée
, A. Maat-Kievit
, M.E. Simon
, Y van Bever
, I. Stolte-Dijkstra
, W.S. Kerstjens-Frederikse
, J.C. Herkert
, A.J. van Essen
, K.D. Lichtenbelt
, A. van Haeringen
, M.L. Kwee
, A.M. Lachmeijer
, G.M.B. Tan-Sindhunata

M.C. van Maarle, Y.H. Arens, E.E. Smeets, C.E.M. de Die-Smulders, J.J. Engelen, H.J. Smeets, J. Herbergs

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

Translated title of the contribution	The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
Original language	Undefined/Unknown
Pages (from-to)	999-1005
Number of pages	7
Journal	European Journal of Human Genetics
Volume	18
Issue number	9
Publication status	Published - 2010

Cite this

Paulussen, A. D., Schrander-Stumpel, C. T. R. M., Tserpelis, D., Spee, M. K., Stegmann, A. P., Mancini, G. M., Brooks, A. S., Collée, M., Maat-Kievit, A., Simon, M. E., 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., ... 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.

@article{4598e8c8a1814c3fbc5c5b8c0b9e9844,

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

author = "A.D. Paulussen and C.T.R.M. Schrander-Stumpel and D. Tserpelis and M.K. Spee and A.P. Stegmann and G.M. Mancini and A.S. Brooks and M. Coll{\'e}e and A. Maat-Kievit and M.E. Simon and \{van Bever\}, Y and I. Stolte-Dijkstra and W.S. Kerstjens-Frederikse and J.C. Herkert and \{van Essen\}, A.J. and K.D. Lichtenbelt and \{van Haeringen\}, A. and M.L. Kwee and A.M. Lachmeijer and G.M.B. Tan-Sindhunata and \{van Maarle\}, M.C. and Y.H. Arens and E.E. Smeets and \{de Die-Smulders\}, C.E.M. and J.J. Engelen and H.J. Smeets and J. Herbergs",

year = "2010",

language = "Undefined/Unknown",

volume = "18",

pages = "999--1005",

journal = "European Journal of Human Genetics",

issn = "1018-4813",

publisher = "Springer Nature",

number = "9",

}

Paulussen, AD, Schrander-Stumpel, CTRM, Tserpelis, D, Spee, MK, Stegmann, AP, Mancini, GM, Brooks, AS, Collée, M, Maat-Kievit, A, Simon, ME, van Bever, Y, Stolte-Dijkstra, I, Kerstjens-Frederikse, WS, Herkert, JC, van Essen, AJ, Lichtenbelt, KD, van Haeringen, A, Kwee, ML, Lachmeijer, AM, Tan-Sindhunata, GMB, van Maarle, MC, Arens, YH, Smeets, EE, de Die-Smulders, CEM, Engelen, JJ, Smeets, HJ & 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.

TY - JOUR

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

AU - Paulussen, A.D.

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

AU - Tserpelis, D.

AU - Spee, M.K.

AU - Stegmann, A.P.

AU - Mancini, G.M.

AU - Brooks, A.S.

AU - Collée, M.

AU - Maat-Kievit, A.

AU - Simon, M.E.

AU - van Bever, Y

AU - Stolte-Dijkstra, I.

AU - Kerstjens-Frederikse, W.S.

AU - Herkert, J.C.

AU - van Essen, A.J.

AU - Lichtenbelt, K.D.

AU - van Haeringen, A.

AU - Kwee, M.L.

AU - Lachmeijer, A.M.

AU - Tan-Sindhunata, G.M.B.

AU - van Maarle, M.C.

AU - Arens, Y.H.

AU - Smeets, E.E.

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

AU - Engelen, J.J.

AU - Smeets, H.J.

AU - Herbergs, J.

PY - 2010

Y1 - 2010

M3 - Article

SN - 1018-4813

VL - 18

SP - 999

EP - 1005

JO - European Journal of Human Genetics

JF - European Journal of Human Genetics

IS - 9

ER -