Case Report: unmasking pseudo-homozygosity in CYP21A2: intergenerational gene conversion expansion and the necessity of multimodal genetic testing - Summary - MDSpire
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Case Study: Revealing Pseudo-Homozygosity in CYP21A2 Through Intergenerational Gene Conversion Expansion and the Importance of Comprehensive Genetic Testing

  • By

  • Zuhal Altintas

  • Sefanur Karaca

  • Ayhan Coskun

  • August 18, 2026

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