Fig. 1From: The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutationPedigree and molecular analysis of the family with kEDS-PLOD1. a Pedigree of the family of kEDS of Chinese origin. b A homozygous mutation of PLOD1 (c.1697 G > A) in patient (II-2) is a novel missense mutation (p.C566Y). His parents (I-1 and I-2) were heterozygous carriers of corresponding mutation. Black symbols present affected individuals, white symbols with black dots present carriers of the mutationBack to article page