Tibbe Dhooge
- ORCID iD
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0000-0002-1374-8259
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Kyphoscoliotic Ehlers‐Danlos syndrome caused by pathogenic variants in FKBP14 : further insights into the phenotypic spectrum and pathogenic mechanisms
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Further insights in the FKBP14-related khyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
(2022) EUROPEAN JOURNAL OF HUMAN GENETICS. In European Journal of Human Genetics 30(Supplement 1). p.167-167 -
- Conference Paper
- C3
- open access
Further insights in the FKBP14-related kyphoscoliotic Ehlers-Danlos syndrome : report of 3 unrelated individuals and 2 new pathogenic variants
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More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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Clinical and molecular characteristics of 168 probands and 65 relatives with a clinical presentation of classical Ehlers-Danlos syndrome
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Caffey disease is associated with distinct arginine to cysteine substitutions in the proα1(I) chain of type I procollagen
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Exploring collagen-related disorders : beyond the typical clinical and molecular spectrum
(2021) -
More than meets the eye : expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome
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More than meets the eye in Brittle Cornea Syndrome : genotype-phenotype studies on novel and reported pathogenic variants in ZNF469 and PRDM5
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Novel defects in collagen XII and VI expand the mixed myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix