Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

@article{Lacbawan2009ClinicalSO,
  title={Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function},
  author={F. Lacbawan and B. Solomon and E. Roessler and K. El-Jaick and S. Domen{\'e} and J. I. Velez and N. Zhou and D. Hadley and J. Balog and R. Long and A. Fryer and W. Smith and S. Omar and S. McLean and K. Clarkson and A. Lichty and N. J. Clegg and M. Delgado and E. Levey and E. Stashinko and L. Potocki and M. I. Vanallen and J. Clayton-Smith and D. Donnai and D. Bianchi and P. J{\'u}l{\'i}usson and P. Nj{\o}lstad and H. Brunner and J. Carey and U. Hehr and J. M{\"u}sebeck and P. Wieacker and A. Postra and R. Hennekam and M. H. van den Boogaard and A. van Haeringen and A. Paulussen and J. Herbergs and C. Schrander-Stumpel and A. Janecke and D. Chitayat and J. Hahn and D. McDonald-McGinn and E. Zackai and W. Dobyns and M. Muenke},
  journal={Journal of Medical Genetics},
  year={2009},
  volume={46},
  pages={389 - 398}
}
Background: Holoprosencephaly (HPE) is the most common structural malformation of the human forebrain. There are several important HPE mutational target genes, including the transcription factor SIX3, which encodes an early regulator of Shh, Wnt, Bmp and Nodal signalling expressed in the developing forebrain and eyes of all vertebrates. Objective: To characterise genetic and clinical findings in patients with SIX3 mutations. Methods: Patients with HPE and their family members were tested for… Expand
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