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Congenital Fibrosis of the Extraocular Muscles Type 1, Distinctive Conjunctival Changes and Intrapapillary Disc Colobomata
PURPOSE: To describe the ocular features and genetic mutation of a 6 month old male with congenital fibrosis of the extraocular muscles Type 1 (CFEOM1) with distinctive conjunctival changes and small intrapapillary disc colobomata. MATERIALS & METHODS: Clinical examination of the proband, his pa...
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Principais autores: | , , , |
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Formato: | Artigo |
Idioma: | Inglês |
Publicado em: |
2009
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Assuntos: | |
Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2671641/ https://ncbi.nlm.nih.gov/pubmed/19373680 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1080/13816810802697473 |
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