Journal Article

How a Hedgehog might see holoprosencephaly

Erich Roessler and Maximilian Muenke

in Human Molecular Genetics

Volume 12, issue suppl_1, pages R15-R25
Published in print April 2003 | ISSN: 0964-6906
Published online April 2003 | e-ISSN: 1460-2083 | DOI: http://dx.doi.org/10.1093/hmg/ddg058
How a Hedgehog might see holoprosencephaly

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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.

Journal Article.  8261 words.  Illustrated.

Subjects: Genetics and Genomics

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