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Fig. 1 | BMC Medical Genetics

Fig. 1

From: The first case report of Kyphoscoliotic Ehlers-Danlos syndrome of chinese origin with a novel PLOD1 gene mutation

Fig. 1

Pedigree 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 mutation

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BMC Medical Genetics

ISSN: 1471-2350

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