Two patients with Knobloch syndrome due to mutation in COL8A1 gene: case report and review of the literature

被引：0
作者：
Tulin Aras Ogreden
Gürkan Erdoğan
机构：
[1] Medipol University,
[2] Department of Ophtalmology,undefined
[3] Istanbul University Istanbul Faculty of Medicine,undefined
来源：
BMC Ophthalmology | / 24卷
关键词：
Knobloch syndrome; COL18A1 gene; Pediatric retinal detachment; Retinal surgery; Case report;
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Knobloch WH(1971)Retinal detachment and encephalocele J Pediat Ophthalmol 8 181-4
[2]  
Layer JM(2012)The distinct ophthalmic phenotype of Knobloch syndrome in children Br J Ophthalmol 96 890-5
[3]  
Khan AO(2002)Molecular Analysis of Collagen XVIII reveals novel mutations, Presence of a third isoform, and possible genetic heterogeneity in Knobloch Syndrome Am J Hum Genet Volume 71 1320-9
[4]  
Aldahmesh MA(2005)Physiological role of collagen XVIII and endostatin FASEB J 19 716-28
[5]  
Mohamed JY(2016)Molecular and clinical findings in patients with Knobloch Syndrome JAMA Ophthalmol 134 753-62
[6]  
Al-Mesfer S(2020)Macular Hole-related retinal detachment in children with Knobloch Syndrome Ophthalmol Retina 4 498-503
[7]  
Alkuraya FS(2014)MD. Prophylactic scleral buckle implantation in Knobloch Syndrome J Pediat Ophthalmol 51 e40-3
[8]  
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[9]  
Sertié AL(undefined)undefined undefined undefined undefined-undefined
[10]  
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