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American Journal of Human Genetics|September 26, 2003
Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosisSandra Hanks, Sarah Adams, Jenny Douglas, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|March 7, 2019
Atypical COL3A1 variants (glutamic acid to lysine) cause vascular Ehlers-Danlos syndrome with a consistent phenotype of tissue fragility and skin hyperextensibilityNeeti Ghali, Duncan Baker, Angela F Brady, et al.Journal of Medical Genetics|October 9, 2023
Genetic complexity of diagnostically unresolved Ehlers-Danlos syndromeAnthony M Vandersteen, Ruwan A Weerakkody, David A Parry, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|June 16, 2017
A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural historyCecilia Giunta, Matthias Baumann, Christine Fauth, et al.American Journal of Human Genetics|October 18, 2016
Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of ComplementInes Kapferer-Seebacher, Melanie Pepin, Roland Werner, et al.American Journal of Medical Genetics. Part C, Seminars in Medical Genetics|March 18, 2017
The 2017 international classification of the Ehlers-Danlos syndromesFransiska Malfait, Clair Francomano, Peter Byers, et al.Pageof 3