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• (author = "Berta, P")
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Mutations in the human Sonic Hedgehog gene cause holoprosencephaly.

Author(s) : Roessler, E , Belloni, E , Gaudenz, K , Jay, P , Berta, P , Scherer, SW , Tsui, LC , Muenke, M
Description : Holoprosencephaly (HPE) is a common developmental defect of the forebrain and frequently the midface in humans, with both genetic and environmental causes. HPE has a prevalence of 1:250 during embryogenesis and 1:16,000 newborn infants, and involves incomplete development and septation of midline st...
Repository : The HKU Scholars Hub , View repository documents
Language(s) : English
Subject(s) : Drosophila proteins , Holoprosencephaly - genetics , Mutation , Proteins - genetics , Infant
Publisher(s) : Nature Publishing Group. The Journal's web site is located at http://www.genetics.nature.com , United States
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Source(s) :
Publication Date(s) : 2007-09-12