A case report of Culler-Jones syndrome with deafness carrying a novel mutation in GLI2 gene
Abstract Background Culler-Jones syndrome (CJS)(OMIM: 615849) is a rare genetic disorder characterized by multiple anterior pituitary hormone deficiencies and variable polydactyly, caused by mutations in the GLI2 gene (OMIM: 165230). Case presentation A 9-year- and 8-month-old male presented with mu...
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| Principais autores: | , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
BMC
2025-10-01
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| Series: | BMC Pediatrics |
| Assuntos: | |
| Acceso en liña: | https://doi.org/10.1186/s12887-025-06135-0 |
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