Stickler syndrome in children: a radiological review.
Sign Up to like & getrecommendations! Published in 2018 at "Clinical radiology"
DOI: 10.1016/j.crad.2018.03.004
Abstract: AIM To review the radiological findings of the largest cohort to date of paediatric patients with Stickler syndrome, all with confirmed molecular genetic analysis and sub-typing. PATIENTS AND METHODS It is understood that the National… read more here.
Keywords: stickler; syndrome children; stickler syndrome; radiological review ... See more keywords
Reduced penetrance in a large Caucasian pedigree with Stickler syndrome
Sign Up to like & getrecommendations! Published in 2017 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2016.1275018
Abstract: ABSTRACT Background: In a four-generation Caucasian family variably diagnosed with autosomal dominant (AD) Stickler or Wagner disease, commercial gene screening failed to identify a mutation in COL2A1 or VCAN. We utilized linkage mapping and exome… read more here.
Keywords: exome sequencing; col2a1; stickler; analysis ... See more keywords
Use of vitreous phenotype as a key clinical marker to identify Ocular-only Stickler syndrome in a family with Marfan syndrome.
Sign Up to like & getrecommendations! Published in 2023 at "European journal of ophthalmology"
DOI: 10.1177/11206721231169309
Abstract: This clinical report describes a family with both Marfan and ocular-only Stickler syndromes. We report 2 cases of ocular-only Stickler syndrome and 2 cases of Marfan syndrome concurrent with ocular-only Stickler syndrome. Type 1 Stickler… read more here.
Keywords: marfan syndrome; ocular stickler; stickler syndrome; stickler ... See more keywords
Dominant Stickler Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13061089
Abstract: The Stickler syndromes are a group of genetic connective tissue disorders associated with an increased risk of rhegmatogenous retinal detachment, deafness, cleft palate, and premature arthritis. This review article focuses on the molecular genetics of… read more here.
Keywords: dominant stickler; stickler syndrome; stickler;
Prevention of Blindness in Stickler Syndrome
Sign Up to like & getrecommendations! Published in 2022 at "Genes"
DOI: 10.3390/genes13071150
Abstract: Stickler syndromes are inherited conditions caused by abnormalities of structural proteins in the eye, inner ear and cartilage. The risk of retinal detachment, particularly due to the development of giant retinal tears, is high. Stickler… read more here.
Keywords: retinal detachment; syndrome patients; risk retinal; stickler ... See more keywords