Genetic & Genomic MedicinemedRxivPreprint
Loss of function variants in ADAMTS6: Connective tissue, Heart defect, thoracic Aortic aneurysm and Neuro developmental Syndrome (CHANS)
Júlia Huguet Herrero, Pauline Arnaud, Angélique Bibimbou…·Carine Le Goff
The paper identifies loss-of-function variants in ADAMTS6 in patients with vascular and neurodevelopmental disorders, linking them to connective tissue defects and proposing a new syndrome called CHANS.
2 citations