- 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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- Journal Article
- open access
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome (vol 108, pg 1095, 2021)
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- Journal Article
- A1
- open access
Loss-of-function variants in EFEMP1 cause a recognizable connective tissue disorder characterized by cutis laxa and multiple herniations
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Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome
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Severe congenital cutis laxa : Identification of novel homozygous LOX gene variants in two families
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Arterial tortuosity syndrome : an ascorbate compartmentalization disorder?
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Cutis laxa : a comprehensive overview of clinical characteristics and pathophysiology
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Homozygous EMILIN1 loss-of-function variants impair both elastin and collagen fiber formation and cause a novel entity with arterial tortuosity and osteopenia
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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