Mutations in CDON, Encoding a Hedgehog Receptor, Result in Holoprosencephaly and Defective Interactions with Other Hedgehog Receptors

Holoprosencephaly (HPE), a common human congenital anomaly defined by a failure to delineate the midline of the forebrain and/or midface, is associated with diminished Sonic hedgehog (SHH)-pathway activity in development of these structures. SHH signaling is regulated by a network of ligand-binding...

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Hlavní autoři: Bae, Gyu-Un, Domené, Sabina, Roessler, Erich, Schachter, Karen, Kang, Jong-Sun, Muenke, Maximilian, Krauss, Robert S.
Médium: Artigo
Jazyk:Inglês
Vydáno: Elsevier 2011
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Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3155179/
https://ncbi.nlm.nih.gov/pubmed/21802063
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2011.07.001
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