Genotype-phenotype Correlations of Ocular Posterior Segment Abnormalities in Marfan Syndrome

Purpose: Marfan syndrome (MFS) is a connective tissue disorder caused by mutations in the fibrillin-1 ( (FBN1). In addition to typical phenotypes such as ectopia lentis (EL) and aortic dilation, patients with MFS are prone to ocular posterior segment abnormalities, including retinal detachment (RD),...

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Hlavní autoři:	Yan Liu, BM, Yuqiao Ju, MM, Tian-hui Chen, MM, Yong-xiang Jiang, MD, PhD
Médium:	Artigo
Jazyk:	Inglês
Vydáno:	Elsevier 2024-09-01
Edice:	Ophthalmology Science
Témata:	FBN1 Genotype-phenotype correlation Maculopathy TGF-β regulating sequence
On-line přístup:	http://www.sciencedirect.com/science/article/pii/S2666914524000629
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