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={Felicitas L. Lacbawan and Benjamin D Solomon and Erich Roessler and K. B. El-Jaick and Sabina Domen{\'e} and Jorge Iv{\'a}n V{\'e}lez and Nan Zhou and Donald W Hadley and Joan Z. Balog and Robert Long and Alan Fryer and Wayne Smith and Saima Omar and Scott D. Mclean and Katie Clarkson and Angie W Lichty and Nancy J. Clegg and Mauricio R Delgado and Eric Levey and Elaine Stashinko and Lorraine Potocki and M I Vanallen and Jill Clayton-Smith and Dian Donnai and Diana W. Bianchi and P{\'e}tur B J{\'u}l{\'i}usson and P{\aa}l Rasmus Nj{\o}lstad and Han G. Brunner and John C Carey and Ute Hehr and J{\"o}rg M{\"u}sebeck and Peter F. Wieacker and A Postra and Raoul C Hennekam and M-J H van den Boogaard and Arie van Haeringen and Aimee D C Paulussen and Jos Herbergs and Connie Schrander-Stumpel and Andreas R Janecke and David Chitayat and Jin S. Hahn and Donna M. McDonald‐McGinn and Elaine H. Zackai and William B. Dobyns and Maximilian Muenke},
  journal={Journal of medical genetics},
  year={2009},
  volume={46 6},
  pages={
          389-98
        }
}
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… CONTINUE READING

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