Bilateral Testicular Regression Syndrome and Optic Nerve Atrophy: Clinical Aspects of a Child with a SEMA3E Loss-of-Function Variant
LoF SEMA3E variants may be associated with a broad and variable spectrum of clinical phenotypes. .
Authors
- Anu Bashamboo (ORCID: https://orcid.org/0000-0003-3218-517X)
- Maëva Elzaïat (ORCID: https://orcid.org/0000-0002-0499-1724)
- Raja Brauner (ORCID: https://orcid.org/0000-0002-4456-4508)
- Ken McElreavey (ORCID: https://orcid.org/0000-0001-6582-1801)
- Somboon Wankanit (ORCID: https://orcid.org/0000-0002-7171-6597)
- Estelle Talouarn (ORCID: https://orcid.org/0000-0002-5016-0446)
- L. Schlick (ORCID: https://orcid.org/0009-0002-3943-6584)
Institutions
- Université Paris Cité (FR)
- Mahidol University (TH)
- Fondation Ophtalmologique Adolphe de Rothschild (FR)
- Ramathibodi Hospital (TH)
Publication Details
- Journal
- Sexual Development
- Published
- 2025-11-13
- DOI
- https://doi.org/10.1159/000549385
- Primary Topic
- Phosphodiesterase function and regulation
- Type
- article
- Field-Weighted Citation Impact
- 0.00