WT1 Deletion in 46,XY DSD: The Importance of Copy Number Variant Analysis
This case reinforces the role of CNV analysis as part of genomic analysis, which holds exciting potential for improving diagnostic rates in the future.
Authors
- Gabby Atlas (ORCID: https://orcid.org/0000-0001-7705-7425)
- Sultana MH Faradz (ORCID: https://orcid.org/0000-0001-6531-632X)
- Peter Ivan Hadiprajitno (ORCID: https://orcid.org/0000-0003-4863-6852)
- David Francis (ORCID: https://orcid.org/0000-0002-4620-9315)
- Katrina M. Bell (ORCID: https://orcid.org/0000-0001-6109-3667)
- Andrew Sinclair (ORCID: https://orcid.org/0000-0003-2741-7992)
- Nurin Aisyiyah Listyasari (ORCID: https://orcid.org/0000-0003-4996-0507)
- Gorjana Robevska (ORCID: https://orcid.org/0000-0002-9407-8460)
- Elena J. Tucker (ORCID: https://orcid.org/0000-0002-6380-5100)
- Ardy Santosa
- Katie Ayers (ORCID: https://orcid.org/0000-0002-6840-3186)
- Jocelyn van den Bergen
- Tiong Yang Tan
- Achmad Zulfa Juniarto
- Michele A. O'Connell
Publication Details
- Journal
- Sexual Development
- Published
- 2026-03-27
- DOI
- https://doi.org/10.1159/000551741
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00