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VSX2 mutations in autosomal recessive microphthalmia
PURPOSE: To further explore the spectrum of mutations in the Visual System Homeobox 2 (VSX2/CHX10) gene previously found to be associated with autosomal recessive microphthalmia. METHODS: We screened 95 probands with syndromic or isolated developmental ocular conditions (including 55 with anophthalm...
Autores principales: | Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Molecular Vision
2011
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185030/ https://www.ncbi.nlm.nih.gov/pubmed/21976963 |
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