Concomitant Mosaic Turner Syndrome and Congenital Adrenal Hyperplasia in one of three patients of USP9X variant-associated Autism Spectrum Disorder
This report documents the first instance of a triple diagnosis of XLID99, Turner syndrome, and congenital adrenal hyperplasia. Findings underline the significance of genetic evaluation in ASD for identifying rare and complex diagnoses.
Authors
- Hamide Betül Gerik Çelebi (ORCID: https://orcid.org/0000-0001-5218-7880)
- Ahmet Güleç (ORCID: https://orcid.org/0000-0001-9979-5891)
- Meliha Demiral (ORCID: https://orcid.org/0000-0002-0535-4954)
Institutions
- Balıkesir University (TR)
- Tokat Gaziosmanpaşa Üniversitesi (TR)
- Ankara Atatürk Eğitim ve Araştırma Hastanesi (TR)
- Gaziosmanpaşa Taksim Eğitim ve Araştırma Hastanesi (TR)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-02-03
- DOI
- https://doi.org/10.1159/000543957
- Primary Topic
- Autism Spectrum Disorder Research
- Type
- article
- Field-Weighted Citation Impact
- 0.00