Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.

Abstract

Holoprosencephaly (HPE) is a clinically variable and genetically heterogeneous central nervous system (CNS) malformation. Alobar HPE, which is its most severe form, is associated with a poor prognosis. At the milder end of the HPE spectrum microcephaly, hypotelorism, and single central maxillary incisor may be recognised. Currently, four genes have been… (More)

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Cite this paper

@article{Heussler2002ExtremeVO, title={Extreme variability of expression of a Sonic Hedgehog mutation: attention difficulties and holoprosencephaly.}, author={Honey Heussler and Mohnish Suri and Ian D. Young and Maximilian Muenke}, journal={Archives of disease in childhood}, year={2002}, volume={86 4}, pages={293-6} }