Ehlers-Danlos syndrome
Definition:
References:
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[1]. Anne De Paepe, et al. Bleeding and bruising in patients with Ehlers-Danlos syndrome and other collagen vascular disorders. Br J Haematol. 2004 Dec;127(5):491-500. [Content Brief]
[2]. Fransiska Malfait, et al. The 2017 international classification of the Ehlers-Danlos syndromes. Am J Med Genet C Semin Med Genet. 2017 Mar;175(1):8-26. [Content Brief]
[3]. G H Burch, et al. Tenascin-X deficiency is associated with Ehlers-Danlos syndrome. Nat Genet. 1997 Sep;17(1):104-8. [Content Brief]
[4]. K Michalickova, et al. Mutations of the alpha2(V) chain of type V collagen impair matrix assembly and produce ehlers-danlos syndrome type I. Hum Mol Genet. 1998 Feb;7(2):249-55. [Content Brief]
[5]. Liakat A Parapia, et al. Ehlers-Danlos syndrome--a historical review. Br J Haematol. 2008 Apr;141(1):32-5. [Content Brief]
[6]. Patrick R Blackburn, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018 Apr 5;102(4):696-705. [Content Brief]
[7]. R J Wenstrup, et al. A splice-junction mutation in the region of COL5A1 that codes for the carboxyl propeptide of pro alpha 1(V) chains results in the gravis form of the Ehlers-Danlos syndrome (type I). Hum Mol Genet. 1996 Nov;5(11):1733-6. [Content Brief]
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