Phenotypic characterisation of SMAD4 variant carriers.
Claire CaillotJean-Christophe SaurinValérie HervieuMarie FaoucherJulie ReversatEvelyne DecullierGilles PoncetSabine BaillySophie GiraudSophie Dupuis-GirodPublished in: Journal of medical genetics (2024)
gene variants and justify systematic cardiac ultrasound and skeletal complications screening.
Keyphrases
- copy number
- epithelial mesenchymal transition
- genome wide
- magnetic resonance imaging
- transforming growth factor
- left ventricular
- risk factors
- genome wide identification
- dna methylation
- ultrasound guided
- contrast enhanced ultrasound
- heart failure
- computed tomography
- transcription factor
- signaling pathway
- atrial fibrillation