Skip to search formSkip to main contentSkip to account menu

STICKLER SYNDROME, TYPE II (disorder)

Known as: STICKLER SYNDROME, TYPE II, Stickler syndrome, beaded vitreous type, STICKLER SYNDROME, VITREOUS TYPE 2 
A rare autosomal dominant syndrome caused by mutations in the COL11A1 gene. It is characterized by an abnormal ocular vitreous architecture (beaded… 
National Institutes of Health

Related topics

Related topics

14 relations
Autosomal dominant inheritanceBifid uvulaCOL11A1, GLY97VALCataract

Broader (3)

Collagen Type XIConnective Tissue DiseasesVitreous Detachment

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2018
2018
GIUSEPPE FORCHIELLI y ALPHONSUS MARIA STICKLER (curantibus), Studia Gratiana, vol. 15, 790 págs., Ed. Pontificio Ateneo Salesiano, L.A.S., Piazza dell' Ateneo Salesiano, 1, 00139 Roma, Roma, 1972
2017
2017
A novel dominant COL11A1 mutation in a child with Stickler syndrome type II is associated with recurrent fractures
SummaryThis case describes a child with blindness, recurrent low-impact fractures, low bone mass, and intermittent joint pain who… 
2014
2014
Marshall University Music Department Presents The Marshall University Symphony Orchestra, in, Who's Afraid of the Orchestra?, Dr. Elizabeth Reed Smith, conductor, Dr. Larry Stickler, narrator
Review
2013
Review
2013
[Paediatric retinal detachment and hereditary vitreoretinal disorders].
The number of retinal detachments in children is very low in comparison to the number in adults. One predisposing factor for… 
2013
2013
Hereditäre Vitreoretinopathien und Netzhautablösung im Kindesalter
  • P. Meier
  • Klin Monatsbl Augenheilkd
  • 2013
  • Corpus ID: 256733341
Zusammenfassung Die Zahl der Netzhautablösungen bei Kindern ist im Vergleich zum Erwachsenenalter relativ gering, hereditäre… 
2007
2007
The Attractiveness of the Tridentine Mass by Alfons
Cardinal Alfons Stickler, retired prefect of the Vatican Archives and Library, is normally reticent. Not so during his trip to… 
1997
1997
Marshall-Stickler phenotype associated with von Willebrand disease.
We report on 6 individuals from three different kindreds with Marshall-Stickler (MS) phenotype, with characteristic orofacial… 
1997
1997
Sindrome de Marshall: sindrome distinta ou uma variante da sindrome de Stickler
1991
1991
Texas Indian Heritage Dancers
Photograph of Texas Indian Heritage Society Dancers at the 20th Annual Texas Folklife Festival in San Antonio, Texas. In the… 
1978
1978
533 WAGNER-STICKLER SYNDRCME: A GENETIC STUDY
Based on our study of 32 affected individuals in 10 families, we suggest that the Wagner and the Stickler syndromes could be the… 
By clicking accept or continuing to use the site, you agree to the terms outlined in our Privacy Policy (opens in a new tab), Terms of Service (opens in a new tab), and Dataset License (opens in a new tab)