Article
Mutational screening of the CYP26A1 gene in patients with caudal regression syndrome.
Birth defects research. Part A, Clinical and molecular teratology - 1 Feb 2006
De Marco Patrizia, Merello Elisa, Mascelli Samantha, Raso Alessandro, Santamaria Andrea, Ottaviano Catherine, Calevo Maria Grazia, Cama Armando, Capra Valeria
Abstract excerpt
BACKGROUND: The retinoic acid (RA)-catabolizing enzyme Cyp26a1 plays an important role in protecting tailbud tissues from inappropriate exposure to RA. Cyp26a1-null animals exhibit caudal agenesis and spina bifida, imperforate anus, agenesis of the caudal portions of the digestive and urogenital tracts, and malformed lumbosacral skeletal elements. This phenotype closely resembles the most severe form of caudal...
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