A case of congenital hypopituitarism harboring a nonsense variant in the <i>LHX4</i> gene
l A novel de novo nonsense LHX4 variant was found in a boy with hypopituitarism.l A missense variant in WDR11 was detected and inherited from the mother.l A nonsense LHX4 variant is likely responsible for this case.
Authors
- Yuri Etani (ORCID: https://orcid.org/0000-0003-3005-4707)
- Nobuhiko Okamoto
- Masanobu Kawai (ORCID: https://orcid.org/0000-0003-4466-1559)
- Saori Kinoshita
- Shinobu Ida
- Natsuko Yamazaki
- Mikiko Koizumi (ORCID: https://orcid.org/0000-0002-6450-5089)
Institutions
- Osaka Women's and Children's Hospital (JP)
- Yodogawa Christian Hospital (JP)
Publication Details
- Journal
- Clinical Pediatric Endocrinology
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1297/cpe.2025-0006
- Primary Topic
- Growth Hormone and Insulin-like Growth Factors
- Type
- article
- Field-Weighted Citation Impact
- 0.00