• A Case of Refractory Childhood Glaucoma Secondary to Weill-Marchesani Syndrome: Management with Combined CO(2) Laser-Assisted Sclerectomy Surgery and Trabeculectomy
• A Case of Refractory Childhood Glaucoma Secondary to Weill-Marchesani Syndrome: Management with Combined CO₂ Laser-Assisted Sclerectomy Surgery and Trabeculectomy
• A case of secondary glaucoma in Weill-Marchesani syndrome
• A new combined surgical approach in a patient with microspherophakia and developmental iridocorneal angle anomaly
• A novel ADAMTS17 variant that causes Weill-Marchesani syndrome 4 alters fibrillin-1 and collagen type I deposition in the extracellular matrix
• A Novel Missense Mutation in the TGF-beta-binding Protein-Like Domain 3 of FBN1 Causes Weill-Marchesani Syndrome with Intellectual Disability
• A Novel Missense Mutation in the TGF-β-binding Protein-Like Domain 3 of <em>FBN1</em> Causes Weill-Marchesani Syndrome with Intellectual Disability
• A Novel Mutation in the <em>ADAMTS10</em> Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
• A Novel Mutation in the ADAMTS10 Associated with Weil-Marchesani Syndrome with a Unique Presentation of Developed Membranes Causing Severe Stenosis of the Supra Pulmonic, Supramitral, and Subaortic Areas in the Heart
• A novel nonsense mutation in ADAMTS17 caused autosomal recessive inheritance Weill-Marchesani syndrome from a Chinese family
• A novel pathogenic missense ADAMTS17 variant that impairs secretion causes Weill-Marchesani Syndrome with variably dysmorphic hand features
• A Pedigree Report of a Rare Case of Weill-Marchesani Syndrome with New Compound Heterozygous LTBP2 Mutations
• A report of three families with FBN1-related acromelic dysplasias and review of literature for genotype-phenotype correlation in geleophysic dysplasia
• Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report
• Accommodative esotropia and Brown syndrome in a girl with recessive geleophysic dysplasia
• Acromelic dysplasias: how rare musculoskeletal disorders reveal biological functions of extracellular matrix proteins
• Acute angle-closure glaucoma in a highly myopic patient secondary to Weill-Marchesani syndrome: histopathologic lens features
• ADAMTS proteins as modulators of microfibril formation and function
• ADAMTS-10 and -6 differentially regulate cell-cell junctions and focal adhesions
• Adamts10 controls transforming growth factor <em>β</em> family signaling that contributes to retinal ganglion cell development
• Adamts10 inactivation in mice leads to persistence of ocular microfibrils subsequent to reduced fibrillin-2 cleavage
• ADAMTS10 inhibits aggressiveness via JAK/STAT/c-MYC pathway and reprograms macrophage to create an anti-malignant microenvironment in gastric cancer
• ADAMTS10-mediated tissue disruption in Weill-Marchesani syndrome
• Adamts17 is involved in skeletogenesis through modulation of BMP-Smad1/5/8 pathway
• ADAMTSL4, a secreted glycoprotein widely distributed in the eye, binds fibrillin-1 microfibrils and accelerates microfibril biogenesis
• Altered Ocular Fibrillin Microfibril Composition in Mice With a Glaucoma-Causing Mutation of Adamts10
• Alternative splicing of the metalloprotease ADAMTS17 spacer regulates secretion and modulates autoproteolytic activity
• Anaesthetic management of a patient with Weill-Marchesani syndrome complicated with mitral regurgitation
• Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2
• Bilateral golden ring in the eye: Weill-Marchesani syndrome
• Case report of two sisters suffering from Weill-Marchesani syndrome with pulmonary stenosis
• Case report: A homozygous <em>ADAMTSL2</em> missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
• Case report: A homozygous ADAMTSL2 missense variant causes geleophysic dysplasia with high similarity to Weill-Marchesani syndrome
• Case Report: Two different acromelic dysplasia phenotypes in a Chinese family caused by a missense mutation in <em>FBN1</em> and a literature review
• Cervical artery dissection expands the cardiovascular phenotype in FBN1-related Weill-Marchesani syndrome
• Characteristics and genotype-phenotype correlations in ADAMTS17 mutation-related Weill-Marchesani syndrome
• Contribution of Dynamic and Genetic Tests for Short Stature Diagnosing: A Case Report
• Delineation of Novel Compound Heterozygous Variants in LTBP2 Associated with Juvenile Open Angle Glaucoma
• Early fibrillin-1 assembly monitored through a modifiable recombinant cell approach
• Elastic fibres in health and disease
• Extended-depth spectral-domain optical coherence tomography imaging of the crystalline lens in Weill-Marchesani-like syndrome
• Familial spherophakia with short stature caused by a novel homozygous ADAMTS17 mutation
• FBN1: The disease-causing gene for Marfan syndrome and other genetic disorders
• Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
• Fibrillin protein pleiotropy: Acromelic dysplasias
• Fibrillin-1 mutations causing Weill-Marchesani syndrome and acromicric and geleophysic dysplasias disrupt heparan sulfate interactions
• Fibrillins
• Fibrin Glue-Assisted Intraocular Lens Fixation in Weill-Marchesani Syndrome
• From tall to short: the role of TGFβ signaling in growth and its disorders
• Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene
• Genetic and functional linkage between ADAMTS superfamily proteins and fibrillin-1: a novel mechanism influencing microfibril assembly and function
• Genetics of ectopia lentis
• Glaucoma in iran and contributions of studies in iran to the understanding of the etiology of glaucoma
• Glaucoma in microspherophakia: presenting features and treatment outcomes
• Glaucoma-causing <em>ADAMTS17</em> mutations are also reproducibly associated with height in two domestic dog breeds: selection for short stature may have contributed to increased prevalence of glaucoma
• Golden ring in the eyes: Weill-Marchesani syndrome
• Identification and molecular characterisation of a homozygous missense mutation in the ADAMTS10 gene in a patient with Weill-Marchesani syndrome
• Immunolocalisation of fibrillin microfibrils in the calf metacarpal and vertebral growth plate
• In vitro biometry of a human spherophakia
• Lensectomy, vitrectomy, and transvitreal ciliary body photocoagulation as primary treatment for glaucoma in microspherophakia
• Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis
• LTBP2 mutations cause Weill-Marchesani and Weill-Marchesani-like syndrome and affect disruptions in the extracellular matrix
• Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
• Microenvironmental regulation by fibrillin-1
• Microspherophakia: A clinical approach and mini review with a case report
• Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
• Missense mutations in FBN1 exons 41 and 42 cause Weill-Marchesani syndrome with thoracic aortic disease and Marfan syndrome
• More than meets the eye: The evolving phenotype of Weill-Marchesani syndrome-diagnostic confusion with geleophysic dysplasia
• Multimodal imaging of angle closure secondary to spherophakia in Weill-Marchesani syndrome
• Mutation survey of candidate genes in 40 Chinese patients with congenital ectopia lentis
• Mutations in CERS3 cause autosomal recessive congenital ichthyosis in humans
• Mutations in LTBP3 cause acromicric dysplasia and geleophysic dysplasia
• Novel homozygous <em>ADAMTS17</em> missense variant in Weill-Marchesani syndrome
• Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome
• Potential Modifying Loci Associated With Primary Lens Luxation, Pedal Hyperkeratosis, and Ocular Phenotypes in Miniature Bull Terriers
• Prescribing Glasses for Aphakia
• Prescribing Glasses for Aphakia
• Primary scleral-fixated posterior chamber intraocular lenses in patients with congenital lens subluxation
• Retinal vascular tortuosity in a patient with weill-marchesani syndrome
• Secondary intraocular lens implantation using the flanged intrascleral fixation technique in pediatric aphakia: case series and review of literature
• Similarity of geleophysic dysplasia and Weill-Marchesani syndrome
• Skeletal manifestations of Marfan syndrome associated to heterozygous R2726W FBN1 variant: sibling case report and literature review
• Study of <em>de novo</em> point mutations in known genes among patients with unexplained intellectual disability or developmental delay
• Sutureless Scleral-Fixated Intraocular Lens Implantation for Refractive Rehabilitation in Eyes With Spherophakia
• The ADAMTS/Fibrillin Connection: Insights into the Biological Functions of ADAMTS10 and ADAMTS17 and Their Respective Sister Proteases
• The fibrillin microfibril scaffold: A niche for growth factors and mechanosensation?
• The quest for substrates and binding partners: A critical barrier for understanding the role of ADAMTS proteases in musculoskeletal development and disease
• The RECK tumor-suppressor protein binds and stabilizes ADAMTS10
• Three novel mutations of the FBN1 gene in Chinese children with acromelic dysplasia
• Transscleral fixation of intraocular lens in the treatment of lens subluxation in children
• Unusual life cycle and impact on microfibril assembly of ADAMTS17, a secreted metalloprotease mutated in genetic eye disease
• Weill- Marchesani syndrome: a rare case report
• Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the <em>ADAMTS17</em> gene: A case report
• Weill-Marchesani syndrome 4 caused by compound heterozygosity of a maternal submicroscopic deletion and a paternal nonsense variant in the ADAMTS17 gene: A case report
• Weill-Marchesani syndrome with advanced glaucoma and corneal endothelial dysfunction: a case report and literature review
• Weill-Marchesani Syndrome with Secondary Angle Closure Glaucoma
• Weill-Marchesani Syndrome, a Rare Presentation of Severe Short Stature with Review of the Literature
• Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature
• Weill-Marchesani-like syndrome caused by an FBN1 mutation with low-penetrance
• Whole exome sequencing identifies a novel splice-site mutation in ADAMTS17 in an Indian family with Weill-Marchesani syndrome