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unilateral kidney agenesis in a child with fraser syndrome: a case report
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نویسنده
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metanat zahra ,tabatabaei mehdi ,zenker martin ,shafeghati yousef
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منبع
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gene cell tissue - 2017 - دوره : 4 - شماره : 4 - صفحه:1 -3
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چکیده
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We report a 6-year-old girl with multiple congenital anomalies compatible with fraser syndrome (cryptophthalmos, syndactyly, and craniofacial abnormalities) and multiple urogenital abnormalities including unilateral renal agenesis resulting from mutations in the fras1 gene exon58:c. 8698g-t (homozygous). the parents were heterozygous for the same mutation.
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کلیدواژه
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fraser syndrome ,renal agenesis ,urogenital abnormalities
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آدرس
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zahedan university of medical sciences, provincial clinical genetic counseling center, ایران, zahedan university of medical sciences, health promotion research center, ایران, magdeburg university clinic, institute for human genetics, molecular genetic laboratory, germany, university of social welfare sciences and rehabilitation, sarem women hospital, sarem cell research center, ایران
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Authors
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