Disease: Spherophakia brachymorphia syndrome
- A Case of Refractory Childhood Glaucoma Secondary to Weill-Marchesani Syndrome: Management with Combined CO<sub>2</sub> Laser-Assisted Sclerectomy Surgery and Trabeculectomy
- 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
- Abnormal lens thickening in a child with Weill-Marchesani syndrome 4: A 3-year follow-up case report
- Adamts10 controls transforming growth factor <em>β</em> family signaling that contributes to retinal ganglion cell development
- ADAMTS10 inhibits aggressiveness via JAK/STAT/c-MYC pathway and reprograms macrophage to create an anti-malignant microenvironment in gastric cancer
- Autosomal Dominant Weill-Marchesani-Like Syndrome in a Chinese Family due to Novel Haplotypic Mutations in LTBP2
- 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
- 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
- Fibrillin microfibril structure identifies long-range effects of inherited pathogenic mutations affecting a key regulatory latent TGFβ-binding site
- Geleophysic dysplasia and Weill-Marchesani syndrome: ADAMTSL2 a possible common gene
- Marfan Syndrome: Enhanced Diagnostic Tools and Follow-up Management Strategies
- Microspherophakia: A clinical approach and mini review with a case report
- Microspherophakic Angle Closure Glaucoma in a Patient with Coffin-Siris Syndrome: Case Report
- Novel homozygous <em>ADAMTS17</em> missense variant in Weill-Marchesani syndrome
- Novel homozygous ADAMTS17 missense variant in Weill-Marchesani syndrome
- Prescribing Glasses for Aphakia
- Prescribing Glasses for Aphakia
- Transscleral fixation of intraocular lens in the treatment of lens subluxation in children
- 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: natural history and genotype-phenotype correlations from 18 news cases and review of literature