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Nutrition: Zinc
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Total 2 results found since Jan 2013.
A Novel De Novo Frameshift Pathogenic Variant in the FAM111B Resulting in Progressive Osseous Heteroplasia Phenotype
ConclusionThis is the first case of POH phenotype associated with a novel de novo pathogenic frameshift variant inFAM111B. Whether the frameshift change inFAM111B predicts POH remains unclear. Further evaluations are necessary to fully elucidate this finding and the potential role and mechanism by which theFAM111B variants contributes to POH phenotype.
Source: Calcified Tissue International - December 27, 2022 Category: Orthopaedics Source Type: research
