Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32
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چکیده
منابع مشابه
Phenotype of autosomal recessive congenital microphthalmia mapping to chromosome 14q32.
BACKGROUND Congenital microphthalmia (OMIM: 309700) may occur in isolation or in association with a variety of systemic malformations. Isolated microphthalmia may be inherited as an autosomal dominant, an autosomal recessive, or an X linked trait. METHODS Based on a whole genome linkage analysis, in a six generation consanguineous family with autosomal recessive inheritance, the first locus f...
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PURPOSE To identify the disease locus for autosomal recessive congenital cataracts in a consanguineous Pakistani family. METHODS All affected individuals underwent a detailed ophthalmologic examination. Blood samples were collected and genomic DNA was extracted. A genome-wide scan was completed with fluorescently-labeled microsatellite markers on genomic DNA from affected and unaffected famil...
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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 anophthalmia/microphthalmia) for mutations in VSX2. RESULTS Homozygous mutations in VSX2 were identified ...
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3 It seems as though I had not drunk from the cup of wisdom, but had fallen into it Søren Kierkegaard To Panu
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1999
ISSN: 0007-1161
DOI: 10.1136/bjo.83.8.919