EPISKOPI BLINDNESS: HEREDITARY BLINDNESS IN A GREEK CYPRIOT FAMILY
نویسندگان
چکیده
منابع مشابه
Clinical reinvestigation and linkage analysis in the family with Episkopi blindness (Norrie disease).
We present the results of a clinical and genetic reinvestigation of the Cypriot family affected by an X chromosomally inherited eye disease originally published by Taylor et al, who coined the term Episkopi blindness. The pedigree was extended to 160 members, including 16 affected males out of 48 males at risk for the disease, most of whom were seen by one of us (PA). Affected males are blind w...
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ژورنال
عنوان ژورنال: British Journal of Ophthalmology
سال: 1959
ISSN: 0007-1161
DOI: 10.1136/bjo.43.6.340