AU - Nikfar, Ali AU - Mansouri, Mojdeh AU - Fatemi Abhari, Gita TI - Coffin-Lowry Syndrome: The First Molecularly Confirmed Report in Iran PT - JOURNAL ARTICLE TA - Iranian-Rehabilitation-Journal JN - Iranian-Rehabilitation-Journal VO - 16 VI - 3 IP - 3 4099 - http://irj.uswr.ac.ir/article-1-888-en.html 4100 - http://irj.uswr.ac.ir/article-1-888-en.pdf SO - Iranian-Rehabilitation-Journal 3 ABĀ  - 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. CP - IRAN IN - Zanjan, imam khomeni genetic counseling center LG - eng PB - Iranian-Rehabilitation-Journal PG - 325 PT - Case Reports YR - 2018