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),...

Deskribapen osoa

Xehetasun bibliografikoak

Egile Nagusiak:	Yan Liu, BM, Yuqiao Ju, MM, Tian-hui Chen, MM, Yong-xiang Jiang, MD, PhD
Formatua:	Artigo
Hizkuntza:	Inglês
Argitaratua:	Elsevier 2024-09-01
Saila:	Ophthalmology Science
Gaiak:	FBN1 Genotype-phenotype correlation Maculopathy TGF-β regulating sequence
Sarrera elektronikoa:	http://www.sciencedirect.com/science/article/pii/S2666914524000629
Etiketak:	Etiketa erantsi Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!