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Ana Acosta Bedón

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Articles

Cover Image, Volume 200A, Number 4, April 2026

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By Ana Acosta Bedón, Vahid Akbari, Ralph Rothstein
| Wiley Online Library Verified
Acosta Bedón, A., Akbari, V., Rothstein, R., Inman, A., Bhalla, S., An, J., Friedman, J.M., Weksberg, R., Boerkoel, C., Jones, S.J.M. and Gibson, W.T. (2026), Cover Image, Volume 200A, Number 4, April 2026. Am J Med Genet, 200:. https://doi.org/10.1002/ajmg.a.70118 Scite metrics Explore this article's citation statements on scite.ai powered by Generating QR code Select Format Something went wrong while generating your QR code. Please try again in a moment.
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Identification of Compound Heterozygous CYP11A1 Variants via Reanalysis of Clinical Sequencing Data

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By Vahid Akbari, Alexandra Inman, Ana Acosta Bedón, Ralph Rothstein
| Wiley Online Library Verified
1 Introduction Biosynthesis of steroid hormones from cholesterol is a crucial metabolic pathway involved in a wide variety of developmental and physiological processes. The first and rate-limiting step of steroidogenesis is the conversion of cholesterol to pregnenolone by a single mitochondrial enzyme, P450scc (side chain cleavage). It is encoded by CYP11A1 on chromosome 15q (Miller and Auchus 2011).
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