دوره 16، شماره 3 - ( September 1397 )                   جلد 16 شماره 3 صفحات 325-329 | برگشت به فهرست نسخه ها


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Nikfar A, Mansouri M, Fatemi Abhari G. Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran. IRJ. 2018; 16 (3) :325-329
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

URL: http://irj.uswr.ac.ir/article-1-888-fa.html


چکیده:   (116 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.
متن کامل [PDF 1327 kb]   (116 دریافت)    
نوع مطالعه: گزارش موردي | موضوع مقاله: ژنتیک
دریافت: ۱۳۹۷/۱/۹ | پذیرش: ۱۳۹۷/۳/۳۰ | انتشار: ۱۳۹۷/۶/۱۰

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