Article
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Clinical genetics - 1 Feb 2022
Stevens Servi J C, Stumpel Constance T R M, Diderich Karin E M, van Slegtenhorst Marjon A, Abbott Mary-Alice, Manning Courtney, Balciuniene Jorune, Pyle Louise C, Leonard Jacqueline, Murrell Jill R, van de Putte Romy, van Rooij Iris A L M, Hoischen Alexander, Lasko Paul, Brunner Han G
Abstract excerpt
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 anogenital malformations. We identified five patients with de novo or inherited pathogenic variants in CDX2 with clinical phenotypes that partially overlap with previous cases,...
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