Understanding the basis of Ehlers–Danlos syndrome in the era of the next-generation sequencing
Author:
Publisher
Springer Science and Business Media LLC
Subject
Dermatology,General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s00403-019-01894-0.pdf
Reference57 articles.
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3. Baumann M, Giunta C, Krabichler B et al (2012) Mutations in FKBP14 cause a variant of Ehlers–Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss. Am J Hum Genet 90(2):201–216
4. Beighton P, De Paepe A, Danks D et al (1988) International nosology of heritable disorders of connective tissue, Berlin, 1986. Am J Med Genet 29:581–594
5. Beighton P, De Paepe A, Steinmann B et al (1998) Ehlers–Danlos syndromes: revised nosology, Villefranche, 1997. Ehlers–Danlos national foundation (USA) and Ehlers–Danlos support group (UK). Am J Med Genet 77(1):31–37
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