Report of a Rare Syndromic Retinal Dystrophy: Asphyxiating Thoracic Dystrophy (Jeune Syndrome)
Jeune syndrome (JS), first described by Jeune as asphyxiating thoracic dystrophy, is an autosomal recessive osteochondrodysplasia with characteristic skeletal abnormalities and variable renal, hepatic, pancreatic, and ocular complications. Approximately 1 in every 100,000 to 130,000 babies is born w...
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| Autores principales: | , |
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| Formato: | Artigo |
| Lenguaje: | Inglês |
| Publicado: |
Turkish Ophthalmology Society
2025-02-01
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| Colección: | Türk Oftalmoloji Dergisi |
| Materias: | |
| Acceso en línea: | https://www.oftalmoloji.org/articles/report-of-a-rare-syndromic-retinal-dystrophy-asphyxiating-thoracic-dystrophy-jeune-syndrome/doi/tjo.galenos.2024.76574 |
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