Marfan syndrome: insights from animal models
Y Jiang, P Jia, X Feng, D Zhang - Frontiers in Genetics, 2025 - frontiersin.org
Marfan syndrome (MFS) is an inherited disorder that affects the connective tissues and
mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the …
mainly presents in the bones, eyes, and cardiovascular system, etc. Aortic pathology is the …
[HTML][HTML] Zonulopathies as Genetic Disorders of the Extracellular Matrix
C Chipeta, J Aragon-Martin, A Chandra - Genes, 2024 - mdpi.com
The zonular fibres are formed primarily of fibrillin-1, a large extracellular matrix (ECM)
glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and …
glycoprotein, and also contain other constituents such as LTBP-2, ADAMTSL6, MFAP-2 and …
[HTML][HTML] Clinical and genetic landscape of ectopia lentis based on a cohort of patients from 156 families
D Guo, S Li, X Xiao, Y Jiang, Y Wang… - … & Visual Science, 2024 - tvst.arvojournals.org
Purpose: To extend the mutation spectrum and explore the characteristics of genotypes and
ocular phenotypes in ectopia lentis (EL). Methods: Variants in all 14 reported EL-associated …
ocular phenotypes in ectopia lentis (EL). Methods: Variants in all 14 reported EL-associated …
Geleophysic dysplasia and Weill–Marchesani syndrome: ADAMTSL2 a possible common gene
Background Geleophysic dysplasia (GD) and Weill–Marchesani syndrome (WMS) are two
rare genetic disorders that are classified as acromelic dysplasias and have many common …
rare genetic disorders that are classified as acromelic dysplasias and have many common …
Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in FBN1 and a literature review
F Tian, X Dong, R Yuan, X Hou, J Qing, Y Li - Frontiers in Pediatrics, 2024 - frontiersin.org
Background Acromelic dysplasia caused by FBN1 mutation includes acromicric dysplasia
(AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three …
(AD), geleophysic dysplasia 2 (GD2), and Weill-Marchesani syndrome 2 (WMS2). All three …
Combined ADAMTS10 and ADAMTS17 inactivation exacerbates bone shortening and skin phenotypes
Weill-Marchesani syndrome (WMS) is characterized by severe short stature, joint
contractures, tight skin, heart valve and eye. WMS is caused by recessive mutations in …
contractures, tight skin, heart valve and eye. WMS is caused by recessive mutations in …
Evidence of a de novo variant in FBN1: p.(Ala882Val) as the cause of congenital bilateral ectopia lentis in a crossbred horse
E Esdaile, K Houston, BJ Till, E Scurrell, M Ling… - 2024 - researchsquare.com
Background: Although several inherited ocular disorders have been extensively studied in
horses, few reports of equine ectopia lentis exist and no genetic investigations have been …
horses, few reports of equine ectopia lentis exist and no genetic investigations have been …
Congenital Anomalies of the Lens
K DEVRANOĞLU, A KAYIRAN - … Ophthalmology-Special Topics, 2024 - turkiyeklinikleri.com
The crystalline lens is a very important ocular structure for the visual function that begins to
develop as early as the in the first month of the embryologic period and continues to …
develop as early as the in the first month of the embryologic period and continues to …