Blended Phenotypes of Sexual Development Disorder and Coenzyme Q10 Deficiency, Together with a Sibling with Homozygous Variants in the AHI1 Gene
Mol Syndromol. 2025 May;16(3):271-277. doi: 10.1159/000541717. Epub 2024 Oct 29. ABSTRACT INTRODUCTION: In consanguineous marriages, different homozygous variants in a single gene may occur in …