Phenotypic characterisation of SMAD4 variant carriers.

Claire CaillotJean-Christophe SaurinValérie HervieuMarie FaoucherJulie ReversatEvelyne DecullierGilles PoncetSabine BaillySophie GiraudSophie Dupuis-Girod

Published in: Journal of medical genetics (2024)

gene variants and justify systematic cardiac ultrasound and skeletal complications screening.

Keyphrases

copy number
epithelial mesenchymal transition
magnetic resonance imaging
genome wide
transforming growth factor
left ventricular
risk factors
genome wide identification
dna methylation
ultrasound guided
signaling pathway