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Fig. 2 | BMC Musculoskeletal Disorders

Fig. 2

From: Lumbar Scheuermann’s disease found in a patient with osteogenesis imperfecta (OI) caused by a heterozygous mutation in COL1A2 (c.4048G > A): a case report

Fig. 2

Pedigree and genetic analysis of the COL1A2 gene in the proband and his family. (a) Pedigree. (b) Mutation analysis revealed a heterozygous mutation of the COL1A2 gene, c.4048G > A (p.G1350S), in the proband (II-4). The proband’s sister (II-1) and her daughter (III-1) harbor the same mutation. The proband’s sister was an asymptomatic heterozygous carrier. The sister’s daughter had mild dentinogenesis imperfecta

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BMC Musculoskeletal Disorders

ISSN: 1471-2474

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