Stickler Syndrome (SS) is a multisystem collagenopathy frequently encountered by
ophthalmologists due to the high rate of ocular complications. Affected individuals are at …

In today's society, the development of information technology is very rapid, and the
transmission and sharing of information has become a development trend. The results of …

Purpose The aim of this study was to determine the genetic cause of autosomal dominant
nonsyndromic hearing loss segregating in a multigenerational family. Methods Clinical …

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 …

Objective: To describe the quality of life and daily functioning of Spanish children and
adolescents living with Stickler syndrome (SS) and to estimate the prevalence of associated …

Sensorineural hearing loss and scoliosis are common in several disease groups, such as
hereditary connective tissue syndrome, hereditary motor and sensory neuropathy, lysosomal …

Objectives: Stickler syndrome (SS) is a heterogeneous inherited connective tissue disorder,
often due to a mutation in COL2A1 or COL11A1. Mutations in these genes cause collagen …

Background Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant
chondrodysplasia characterized by disproportionate short stature, abnormal epiphyses, and …

Stickler syndrome is a connective tissue disorder characterized by ocular, skeletal, orofacial
and auditory manifestations. Its main symptoms are high myopia, retinal detachment, joint …

Hereditary hearing loss is the most common sensory disorder, affecting 1 in 500 newborns.
There are more than 538 million individuals with genetic hearing loss worldwide and this …