988368
پنجشنبه 6 اردیبهشت 1403
دوره 16، شماره 3 - ( September 1397 )
جلد 16 شماره 3 صفحات 329-325 |
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Nikfar A, Mansouri M, Fatemi Abhari G. Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. Iranian Rehabilitation Journal 2018; 16 (3) :325-329
URL: http://irj.uswr.ac.ir/article-1-888-fa.html
URL: http://irj.uswr.ac.ir/article-1-888-fa.html
Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. مجله انگلیسی زبان توانبخشی. 1397; 16 (3) :325-329
چکیده: (5619 مشاهده)
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.
فهرست منابع
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