Related Experiment Video

Updated: Oct 5, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
00:06

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Loss of function variants in ADAMTS6: a new connective tissue disorder with heart defect, aortic aneurysm and

Júlia Huguet Herrero1, Pauline Arnaud2, Angelique Bibimbou1

  • 1Université Paris Cité et Université Sorbonne Paris nord, INSERM U1148, LVTS, Paris, France.

Genetics in Medicine : Official Journal of the American College of Medical Genetics
|October 4, 2026
PubMed
Abstract

Keywords:
ADAMTS6FBN1aortopathyconnective tissue disordergenetic variants

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