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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...

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Detalles Bibliográficos
Autores principales: Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Molecular Vision 2011
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3185030/
https://www.ncbi.nlm.nih.gov/pubmed/21976963