ABSTRACT
Burrows NP, Nicholls AC, Richards AJ, et al. A point mutation in an intronic branch site results in aberrant splicing of COL5A1 and Ehlers-Danlos syndrome in two British
families. Am J Hum Genet 1998; 63:390-8 Burrows NP. The molecular genetics of the Ehlers-Danlos syndrome. Exp Dermatol
1999; 24:99-106 De Paepe A, Nuytinck L, Hausser I, et al. Mutations in the COL5A1 gene are causal in
the Ehlers-Danlos syndromes I and II. Am J Hum Genet 1997; 60:547-54
Ehlers-Danlos syndrome type II
Synonym ● Ehlers-Danlos syndrome mitis
Age of onset ● Birth to infancy; prematurity is not a feature of this form
The clinical features are similar to those of Ehlers-Danlos type I but much milder (Figures 17.7-17.9).
