21 research outputs found
Delineating Ehlers-Danlos syndrome, the classical subtype : molecular and clinical characteristics of a large patient cohort.
Get PDFExploring collagen-related disorders : beyond the typical clinical and molecular spectrum
No full textNovel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum
Get PDFNovel defects in collagen XII and VI expand the mixed Myopathy/Ehlers-Danlos syndrome spectrum and lead to variant-specific alterations in the extracellular matrix
No full textConnecting muscle and matrix : clinical and molecular characterization of six new families with myopathic Ehlers-Danlos syndrome
No full textExpanding the clinical and mutational spectrum of myopathic Ehlers-Danlos syndrome : five new families identified
No full textMyopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
No full textConnecting muscle and matrix in myopathic Ehlers-Danlos syndrome : clinical and molecular characterization of six new families
No full textMyopathic Ehlers-Danlos syndrome : expanding the clinical and mutational spectrum with five new families
No full textMore 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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