Hypophosphatasia - PowerPoint PPT Presentation


Understanding Heterogeneity in Hypophosphatasia: A Case Study in Phenotypic Variability

This case study explores the diverse expression of hypophosphatasia in a Caucasian female patient, highlighting the challenges in diagnosis and treatment. The patient presented with chronic pain, fractures, myopathy, and dental issues, underscoring the complexity of genotype-phenotype correlations i

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