- Work address
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C. Heymanslaan 10, ingang 34 (MRB)
9000 Gent - Aude.Beyens@UGent.be
- ORCID iD
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0000-0003-0231-6861
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Slc2a10 knock-out mice deficient in ascorbic acid synthesis recapitulate aspects of arterial tortuosity syndrome and display mitochondrial respiration defects
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Mutations in LTBP1 cause autosomal recessive cutis laxa syndrome
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A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
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Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
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- Miscellaneous
- open access
Arterial tortuosity syndrome : 40 new families and literature review (vol 20, pg 1236, 2017)
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ATP6V0A2-related cutis laxa in 10 novel patients : focus on clinical variability and expansion of the phenotype
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Myhre syndrome : a first familial recurrence and broadening of the phenotypic spectrum
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- Journal Article
- A1
- open access
Defining the clinical, molecular and ultrastructural characteristics in occipital horn syndrome : two new cases and review of the literature
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Two novel probands with Myhre syndrome identified through WES