Molecular genetics of Stickler and Marshall syndromes, and the role of collagen II and other candidate proteins in high myopia and impaired hearing
Abstract Stickler and Marshall syndromes are genetic disorders both inherited in an autosomal dominant manner. The genotype-phenotype correlation was performed in ten Stickler/Marshall syndrome patients with mutations in the COL11A1 gene. Four patients had a phenotype classified as Marshall syndrom...
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| Format: | Doctoral Thesis |
| Language: | English |
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University of Oulu
2007
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| Online Access: | http://urn.fi/urn:isbn:9789514283628 http://nbn-resolving.de/urn:isbn:9789514283628 |