Ocular anterior segment dysgenesis (ASD) refers to a collection of developmental disorders
affecting the anterior structures of the eye. Although a number of genes have been …

Ocular anterior segment dysgenesis (ASD) describes a spectrum of clinically and genetically
heterogeneous congenital disorders affecting anterior structures that often lead to impaired …

Cerebral small vessel disease (CSVD) is a leading cause of stroke and vascular cognitive
impairment and dementia. Studying monogenic CSVD can reveal pathways that are …

Collagen type IV alpha 1 and alpha 2 (COL4A1 and COL4A2) are major components of
almost all basement membranes. COL4A1 and COL4A2 mutations cause a multisystem …

Ocular anterior segment dysgenesis (ASD) is a complex and poorly understood group of
conditions. A large proportion of individuals with ASD develop glaucoma, a leading cause of …

Purpose: Mutations in the gene encoding collagen type IV alpha 1 (COL4A1) cause
multisystem disorders including anterior segment dysgenesis (ASD) and optic nerve …

The periocular mesenchyme (POM) is a transient migratory embryonic tissue derived from
neural crest cells (NCCs) and paraxial mesoderm that gives rise to most of the structures in …

Oculoskeletal dysplasia segregates as an autosomal recessive trait in the Labrador retriever
and Samoyed canine breeds, in which the causative loci have been termed drd1 and drd2 …

Collagen type IV alpha 1 and 2 (COL4A1 and COL4A2) are present in nearly all basement
membranes. COL4A1 and COL4A2 mutations are pleiotropic, affecting multiple organ …

Collagen VIII is localized in subendothelial and subepithelial extracellular matrices. It is a
major component of Descemet's membrane, a thick basement membrane under the corneal …