Article
Type 1 Stickler syndrome: a histological and ultrastructural study of an untreated globe.
Eye (London, England) - 1 Sept 2006
MacRae M E, Patel D V, Richards A J, Snead M P, Tolmie J, Lee W R
Abstract excerpt
AIMS: To present a histological and ultrastructural study of an untreated globe in a patient with genetically confirmed type 1 Stickler syndrome. METHODS: Histological and electron microscopic examinations were performed on the enucleated globe from the proband of a pedigree with type 1 Stickler syndrome. Linkage analysis was carried out using polymorphic markers flanking the COL2A1 gene and the mutation was...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.
