Aude Beyens
- Work address
-
C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Aude.Beyens@UGent.be
- ORCID iD
-
0000-0003-0231-6861
Show
Sort by
-
Bi-allelic loss-of-function variants in LTBP1cause autosomal recessive cutis laxa syndrome
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(supplement 1). p.40-41 -
- Journal Article
- A1
- open access
Identification of codon 146 KRAS variants in isolated epidermal nevus and multiple lesions in oculoectodermal syndrome : confirmation of the phenotypic continuum of mosaic RASopathies
-
Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
-
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
-
- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
-
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
-
Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
-
Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
-
Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology