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eRAM

encyclopedia of Rare Disease Annotation for Precision Medicine




Disease osteogenesis imperfecta
Comorbidity C0010495|cutis laxa
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PubMedID- 22070778 Lethal osteogenesis imperfecta-like condition with cutis laxa and arterial tortuosity in mz twins due to a homozygous fibulin-4 mutation.

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