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Fig. 1 | BMC Medical Genomics

Fig. 1

From: A novel homozygous variant of COL2A1 in a Chinese male with type II collagenopathy: a case report

Fig. 1

Clinical photographs of the patient. AC Facial characteristics including flat face and short neck. D, E Short lower limbs. F Brachydactyly and enlargement of medium interphalangeal joints. G, H Platyspondyly with irregular vertebral endplates. I, J Metaphyseal enlargement of medium interphalangeal and knee joints. L Heterogeneous bone structure of the proximal femur. K, M Osteochondritis of the right ankle

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