Mosaicism in Stickler syndrome
- 31 July 2012
- journal article
- case report
- Published by Elsevier BV in European Journal of Medical Genetics
- Vol. 55 (6-7), 418-422
- https://doi.org/10.1016/j.ejmg.2012.03.006
Abstract
No abstract availableThis publication has 13 references indexed in Scilit:
- A loss of function mutation in the COL9A2 gene causes autosomal recessive Stickler syndromeAmerican Journal of Medical Genetics Part A, 2011
- Stickler syndrome and the vitreous phenotype: mutations in COL2A1 and COL11A1Human Mutation, 2010
- Stickler syndrome caused by COL2A1 mutations: genotype–phenotype correlation in a series of 100 patientsEuropean Journal of Human Genetics, 2010
- RETROSPECTIVE REVIEW OF STICKLER SYNDROME PATIENTS WITH CLEFT PALATE 1997-2004Anz Journal of Surgery, 2008
- A New Autosomal Recessive Form of Stickler Syndrome Is Caused by a Mutation in the COL9A1 GeneAmerican Journal of Human Genetics, 2006
- Clinical Variability of Stickler Syndrome: Role of Exon 2 of the Collagen COL2A1 GeneSurvey of Ophthalmology, 2003
- The Stickler syndrome: Genotype/phenotype correlation in 10 families with Stickler syndrome resulting from seven mutations in the type II collagen gene locus COL2A1Genetics in Medicine, 2003
- Occurrence of deletion of a COL2A1 allele as the mutation in Stickler syndrome shows that a collagen type II dosage effect underlies this syndromeHuman Mutation, 2002
- Clinical variability of Stickler syndrome with a COL2A1 haploinsufficiency mutation: implications for genetic counsellingJournal of Medical Genetics, 2000
- Splicing Mutations of 54-bp Exons in the COL11A1 Gene Cause Marshall Syndrome, but Other Mutations Cause Overlapping Marshall/Stickler PhenotypesAmerican Journal of Human Genetics, 1999