The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene

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 d...

Descripción completa

Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Blackwell Publishing Ltd 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9153267/
https://www.ncbi.nlm.nih.gov/pubmed/34671974
http://dx.doi.org/10.1111/cge.14076

Ejemplares similares

Ejemplares similares