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Heterozygous mutations in COL2A1 create a spectrum of clinical entities called type II collagenopathies that range from in utero lethal to relatively mild conditions which become apparent only during adulthood. We aimed to characterize the clinical, radiological, and molecular features of a family with an atypical type II collagenopathy.
Pubmed ID: 27955642 RIS Download
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Curated database of known (published) gene lesions responsible for human inherited disease.
View all literature mentionsCurated database of known (published) gene lesions responsible for human inherited disease.
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