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- [21] Mutations in COL1A1 and COL27A1 Associated with a Pectus Excavatum Phenotype in 2 Siblings with Osteogenesis Imperfecta AMERICAN JOURNAL OF CASE REPORTS, 2022, 23
- [24] Osteogenesis Imperfecta Due to Combined Heterozygous Mutations in Both COL1A1 and COL1A2, Coexisting With Pituitary Stalk Interruption Syndrome FRONTIERS IN ENDOCRINOLOGY, 2019, 10