Ocular and systemic features of Rubinstein–Taybi syndrome in a 12-year-old female
Rubinstein–Taybi syndrome (RTS) is an extremely rare congenital neurodevelopmental disorder caused by mutation in the CREBBP and EP300 genes. It is characterized by wide and angulated thumbs and toes, facial dysmorphism, intellectual disabilities, ocular abnormalities, and postnatal growth retardati...
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| Principais autores: | , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Wolters Kluwer Medknow Publications
2023-07-01
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| Colecção: | Indian Journal of Ophthalmology. Case Reports |
| Assuntos: | |
| Acesso em linha: | https://journals.lww.com/10.4103/IJO.IJO_616_23 |
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