Associated Papers
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
Two Different Missense C1S Mutations, Associated to Periodontal Ehlers-Danlos Syndrome, Lead to Identical Molecular Outcomes.
Bally I et al.
Frontiers in Immunology, 2019
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement.
Kapferer-Seebacher I et al.
American Journal of Human Genetics, 2016
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