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Sponsored AI Networking Cookbook: Practical recipes for AI-assisted network automation and development AI Networking Cookbook: Practical recipes for AI-assisted network automation and development

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Z. Altintas

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Case report Open access Aug 2026

Case Report: unmasking pseudo-homozygosity in CYP21A2: intergenerational gene conversion expansion and the necessity of multimodal genetic testing

CYP21A2 gene mutations causing Congenital Adrenal Hyperplasia (CAH) exhibit high allelic complexity. Rare meiotic events, such as de novo expansion of deletion boundaries, can obscure true genotypes, leading to ‘pseudo-homozygosity’ and diagnostic pitfalls. This study characterizes a rare intergenerational expansion of...

Z. Altintas, S. Karaca, Ayhan Coşkun · 0 citations

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