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...
I tiakina i:
| Ngā kaituhi matua: | , , , |
|---|---|
| Hōputu: | Artigo |
| Reo: | Inglês |
| I whakaputaina: |
Wolters Kluwer Medknow Publications
2023-07-01
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| Rangatū: | Indian Journal of Ophthalmology. Case Reports |
| Ngā marau: | |
| Urunga tuihono: | https://journals.lww.com/10.4103/IJO.IJO_616_23 |
| Ngā Tūtohu: |
Kāore He Tūtohu, Me noho koe te mea tuatahi ki te tūtohu i tēnei pūkete!
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