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Myhre syndrome in adulthood : clinical variability and emerging genotype-phenotype correlations
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An unexpected high prevalence of Focal Facial Dermal Dysplasia (FFDD) type IV is linked to a founder effect in the Belgian population
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HRAS-related epidermal nevus syndromes : expansion of the spectrum with first branchial arch defects
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- Journal Article
- A1
- open access
ATP7A-related copper transport disorders : a systematic review and definition of the clinical subtypes
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- Journal Article
- A1
- open access
EMILIN1 deficiency causes arterial tortuosity with osteopenia and connects impaired elastogenesis with defective collagen fibrillogenesis
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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
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Major response to adalimumab in patient with Sweet syndrome associated to an acquired cutis laxa
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Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis (vol 1348, pg 273, 2021)
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- Book Chapter
- open access
Clinical and molecular delineation of cutis laxa syndromes : paradigms for elastic fiber homeostasis