The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the Caudal Type Homeobox 2 gene.
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DOI: 10.1111/cge.14076
Abstract: The caudal type homeobox 2 (CDX2) gene encodes a developmental regulator involved in caudal body patterning. Only three pathogenic variants in human CDX2 have been described, in patients with persistent cloaca, sirenomelia and/or renal and… read more here.
Keywords: caudal type; type homeobox; caudal abnormalities; cdx2 ... See more keywords