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Nutrition: Vitamin D
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Total 3 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
Osteomalacic Myopathy in Children and Adolescents with Vitamin-D Deficiency
Conclusions: Vitamin-D deficiency should be considered in the differential diagnosis of proximal myopathy in children and adolescents.
Source: Neurology India - December 23, 2021 Category: Neurology Authors: Suhalika S Sahni Shruti Kakkar Ruchika Kumar Jatinder S Goraya Source Type: research
