Associated Papers
The Natural History of Dermatosparaxis Ehlers Danlos Syndrome: An Adult Case Series.
Angwin C et al.
American Journal of Medical Genetics. Part A, 2025
Hypermobile Ehlers-Danlos syndromes: Complex phenotypes, challenging diagnoses, and poorly understood causes.
Gensemer C et al.
Developmental Dynamics : an Official Publication of the American Association of Anatomists, 2021
Genomic Landscape and Mutational Spectrum of ADAMTS Family Genes in Mendelian Disorders Based on Gene Evidence Review for Variant Interpretation.
Rim JH et al.
Biomolecules, 2020
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type.
Van Damme T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016
Novel types of mutation responsible for the dermatosparactic type of Ehlers-Danlos syndrome (Type VIIC) and common polymorphisms in the ADAMTS2 gene.
Colige A et al.
The Journal of Investigative Dermatology, 2004
Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene.
Colige A et al.
American Journal of Human Genetics, 1999
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen.
Smith LT et al.
American Journal of Human Genetics, 1992
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