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| fragile_x_syndrome [2025/06/01 21:52] – Scott Larson | fragile_x_syndrome [2025/06/01 21:52] (current) – Scott Larson |
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| * mutation in FMR1 gene on Xq27.3 | * mutation in FMR1 gene on Xq27.3 |
| * results in hypermethylation and no gene product | * results in hypermethylation and no gene product |
| * Gene product- fragile X messenger ribonucleoprotein- protein involved in synapse development and neuronal function | * Gene product- fragile X messenger ribonucleoprotein- protein involved in synapse development and neuronal function |
| ====Resources==== | ====Resources==== |
| * {{::ocular_status_of_boys_with_fragile_x_syndrome.pdf |Hatton DD et al. Ocular status of boys with fragile X syndrome: a prospective study. JAAPOS 1998;2(5):298-302}} | * {{::ocular_status_of_boys_with_fragile_x_syndrome.pdf |Hatton DD et al. Ocular status of boys with fragile X syndrome: a prospective study. JAAPOS 1998;2(5):298-302}} |