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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Hlavní autoři: Reis, Linda M., Khan, Ayesha, Kariminejad, Ariana, Ebadi, Farhad, Tyler, Rebecca C., Semina, Elena V.
Médium: Artigo
Jazyk:Inglês
Vydáno: Molecular Vision 2011
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Research Article
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3185030/
https://ncbi.nlm.nih.gov/pubmed/21976963
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