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coffin-lowry syndrome: the first molecularly confirmed report in iran
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نویسنده
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nikfar ali ,mansouri mojdeh ,fatemi abhari gita
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منبع
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iranian rehabilitation journal - 2018 - دوره : 16 - شماره : 3 - صفحه:325 -329
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چکیده
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Coffin-lowry syndrome (cls) is an x-linked disorder, which affects hemizygous males more severely than females. it is characterized by mental retardation, short stature, head and facial abnormalities, skeletal anomalies and developmental delays. the signs and symptoms vary in different people. we report a 14-year-old male patient, diagnosed with cls based on his clinical features. genetic testing revealed a de novo mutation in ribosomal protein s6 kinase alpha-3 (rps6ka3) gene (c.2185c>t; p. arg729trp). this is the first molecularly confirmed case report of a patient with cls from iran.
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کلیدواژه
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coffin-lowry syndrome ,rps6ka3 ,rsk2 ,x-linked mental retardation ,whole exome sequencing
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آدرس
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zanjan university of medical sciences, school of medicine, department of genetics and molecular medicine, ایران, zanjan university of medical sciences, school of medicine, department of genetics and molecular medicine, ایران, welfare organization of zanjan, imam khomeini genetic counseling center, ایران
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پست الکترونیکی
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g.fatemi.md@gmail.com
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Authors
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