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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Molecular confirmation of carriers for Lowe syndrome.

OBJECTIVE: To determine the sensitivity and specificity of ocular examination for the carrier state of Lowe syndrome in females known to be either carriers or noncarriers by direct DNA diagnosis. DESIGN: Nonrandomized cohort study. PARTICIPANTS: Thirty-one females at risk for carrying Lowe syndrome in 3 families. METHODS: Slit-lamp biomicroscopy after pupillary dilation was performed by a single observer ( RAL) who was masked as to carrier status as determined by allele-specific detection of mutations in genomic DNA. RESULTS: Carrier assessment predetermined by slit-lamp biomicroscopic examination yielded only one false-negative in a young girl 5 years of age and no false-positives among 31 female members examined. CONCLUSIONS: Slit-lamp examination is a highly accurate and sensitive test for carrier detection in Lowe syndrome, particularly in women of reproductive age.[1]


  1. Molecular confirmation of carriers for Lowe syndrome. Lin, T., Lewis, R.A., Nussbaum, R.L. Ophthalmology (1999) [Pubmed]
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