کد مقاله کد نشریه سال انتشار مقاله انگلیسی نسخه تمام متن
5589089 1569460 2017 5 صفحه PDF دانلود رایگان
عنوان انگلیسی مقاله ISI
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
موضوعات مرتبط
علوم زیستی و بیوفناوری بیوشیمی، ژنتیک و زیست شناسی مولکولی ژنتیک
پیش نمایش صفحه اول مقاله
LRP5-linked osteoporosis-pseudoglioma syndrome mimicking isolated microphthalmia
چکیده انگلیسی
It was understood that after finding this mutation, when bone mineral density was measured with DXA in the family whose ages range between 19 and 28 and who have no bone problem before, osteoporosis was diagnosed. It was also understood that microphthalmia found in this family is a clinical finding of OPPG syndrome.
ناشر
Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 60, Issue 3, March 2017, Pages 200-204
نویسندگان
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