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Clinical and molecular genetics of Stickler syndrome
Stickler syndrome is an autosomal dominant disorder with characteristic ophthalmological and orofacial features, deafness, and arthritis. Abnormalities of vitreous gel architecture are a pathognomonic feature, usually associated with high myopia which is congenital and non-progressive. There is a su...
Sparad:
| Huvudupphovsmän: | , |
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| Materialtyp: | Artigo |
| Språk: | Inglês |
| Publicerad: |
BMJ Group
1999
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| Ämnen: | |
| Länkar: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1734362/ https://ncbi.nlm.nih.gov/pubmed/10353778 |
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