Expanding the Clinical Spectrum of Phenotypes Caused by Pathogenic Variants in PLOD2
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DOI: 10.1002/jbmr.3348
Abstract: Osteogenesis imperfecta (OI) is a strikingly heterogeneous group of disorders with a broad range of phenotypic variations. It is also one of the differential diagnoses in bent bone dysplasias along with campomelic dysplasia and thanatophoric… read more here.
Keywords: variants plod2; pathogenic variants; bone; dysplasia ... See more keywords