Associated Papers
Novel inherited CDX2 variant segregating in a family with diverse congenital malformations of the genitourinary system.
Ramadesikan S et al.
Cold Spring Harbor Molecular Case Studies, 2023
The broader phenotypic spectrum of congenital caudal abnormalities associated with mutations in the caudal type homeobox 2 gene.
Stevens SJC et al.
Clinical Genetics, 2022
Exome sequencing identifies the first genetic determinants of sirenomelia in humans.
Lecoquierre F et al.
Human Mutation, 2020
De novo mutations in Caudal Type Homeo Box transcription Factor 2 (CDX2) in patients with persistent cloaca.
Hsu JSJ et al.
Human Molecular Genetics, 2018
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