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Mosaicism in Stickler syndrome
Stickler syndrome is a heterogeneous condition due to mutations in COL2A1, COL11A1, COL11A2, and COL9A1. To our knowledge, neither non-penetrance nor mosaicism for COL2A1 mutations has been reported for Stickler syndrome. We report on a family with two clinically affected sibs with Stickler syndrome...
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| Autors principals: | , , , , , , |
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| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
2012
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3674818/ https://ncbi.nlm.nih.gov/pubmed/22522174 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ejmg.2012.03.006 |
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