Cataract is the leading cause of blindness among the elderly worldwide and cataract
surgery is one of the most common operations performed in the United States. As the …

Dental enamel malformations, or amelogenesis imperfecta (AI), can be isolated or
syndromic. To improve the prospects of making a successful diagnosis by genetic testing, it …

The morphogenesis of the mammalian secondary plate is a series of highly dynamic
developmental process, including the palate shelves vertical outgrowth, elevation to the …

Bearing compression from adjacent joints, the articular cartilage is cumulatively pressured in
daily life, thus making it prone to injuries; however, once damaged, the self-healing capacity …

Purpose Our previous study reported that 5.5% of probands with early-onset high myopia
(eoHM) had mutations in COL2A1 or COL11A1. Why were the probands initially considered …

The etiology and pathogenesis of craniofacial birth defects are multifactorial and include
both genetic and environmental factors. Despite the identification of numerous genes …

Legg-Calvé-Perthes Disease (LCPD) or femoral head ischemia (OMIM# 150600) is a
childhood hip disorder caused by the loss of blood flow to the femoral head, and …

Avascular necrosis of the femoral head (ANFH) is a consequence of ischemia. Although the
majority of cases of ANFH are sporadic, certain familial cases of ANFH have been reported …

Background Acquired early-onset bilateral cataracts can result from systemic etiologies or
genetic disorders. Methods In this observational study, we analyzed individuals 18 months …

Objective: Heterozygous pathogenic variants in the COL2A1 gene result in several clinical
features including impaired skeletal growth, ocular and otolaryngological abnormalities …