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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Autores principales: Bae, G.-U., Domené, S., Roessler, E., Schachter, K., Kang, J.-S., Muenke, M., Krauss, R.S.
Formato: JOUR
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Acceso en línea:http://hdl.handle.net/20.500.12110/paper_00029297_v89_n2_p231_Bae
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