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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Hlavní autoři:	Batuhan Aksoy, Gülipek Tigrel
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Turkish Ophthalmology Society 2025-02-01
Edice:	Türk Oftalmoloji Dergisi
Témata:	jeune syndrome retinal dystrophies nyctalopia asphyxiating thoracic dystrophy inherited retinal diseases
On-line přístup:	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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