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Periodontal Ehlers-Danlos Syndrome Is Caused by Mutations in C1R and C1S, which Encode Subcomponents C1r and C1s of Complement. Am J Hum Genet 99, 1005-1014 (2016).
SLC13A5 is the second gene associated with Kohlschütter-Tönz syndrome. J Med Genet 54, 54-62 (2017).