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mutation holoprosencephaly patient deletion genet family j med genet semilobar fetus picture figure genetic holoprosencephaly adc paulussen analysis study alobar semilobar hpe table cleft alobar hpe dubourg c pedigree brain european journal hpe genes index roessler /figure phenotype feature hedgehog mother spectrum netherland carrier tract european department zic 2 gene dubourg expansion journal cause microcephaly hypotelorism 3 mutations .806 zic 2 tgif gene /palate novel population paulussen array pasquier l region lobar birth 461_470dup roessler e retardation characteristic fication parent speci firmed family members 86 mutations cleft lip /palate affymetrix el-jaick hpe signs zic 2 protein 2 gene deletions phenotypic variability fi rst child member phenotypic birth defects res tables 1
1 Most Recent Publications
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The unfolding clinical spectrum of holoprosencephaly due to mutations in SHH, ZIC2, SIX3 and TGIF genes
(Article)
Paulussen, A.D.C. Schrander-Stumpel, C.T.R.M. Bever, Y. van Stolte-Dijkstra, I. Kerstjense-Frederikse, W.S. Herkert, J.C. Essen, J.A. van Lichtenbelt, K.D. Haeringen, A. van Kwee, M.L. Lachmeijer, A.M.A. Tan-Sindhunata, G.M.B. Tserpelis, D.C.J. Maarle, M.C. Arens, Y.H.J.M. Smeets, E.E.J.G.L. Die-Smulders, C. de Engelen, J.J.M. Smeets, H. Herbergs, J. Spee, M.K.M. Stegmann, A.P.A. Mancini, G.M. Brooks, A.S. Colée, M. Maat-Kievit, A.A. Simon, M.E.H. |
2010-09-01
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