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European Journal of Human Genetics : EJHG|October 4, 2012
Vascular and connective tissue anomalies associated with X-linked periventricular heterotopia due to mutations in Filamin AEyal Reinstein, Sophia Frentz, Tim Morgan, 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 5