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Human Molecular Genetics, 2003, Vol. 12, Review Issue 1 R15-R25
DOI: 10.1093/hmg/ddg058
© 2003 Oxford University Press

How a Hedgehog might see holoprosencephaly

Erich Roessler and Maximilian Muenke*

Medical Genetics Branch, National Human Genome Research Institute, Bldg 10, 10C103, National Institutes of Health, Bethesda, MD 20892-1852, USA

Received December 2, 2002; Accepted January 6, 2003

Detailed knowledge of the Hedgehog signaling pathway is fundamental to an understanding of vertebrate development as well as several birth defects in humans. Here we review various aspects of Hedgehog synthesis, secretion, distribution and function in the context of the most common anomaly of the developing forebrain in humans, holoprosencephaly. Genetic studies in numerous model organisms are beginning to elucidate the factors that are likely candidates for the causes of early embryonic defects in humans, including holoprosencephaly.

* To whom correspondence should be addressed. Tel: +1 3014028167; Fax: +1 3014807876; Email: muenke{at}nih.gov


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