Genetic basis of Ehlers-Danlos syndrome
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Date
2018-05-05
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faculty of Basic Medical Science - Libyan International Medical University
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In this report, we will discuss the genetic and biochemical data, the current
Villefranche classification subdivides EDS into six major subtypes, , which are
caused by mutations in genes encoding fibrillar collagens or enzymes involved in
collagen biosynthesis. Mutations in type V and type III collagen cause classic and
vascular EDS, respectively, whereas mutations affecting the processing of type I
collagen lead to the kyphoscoliotic, arthrochalasic and dermatosparactic EDS types
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