Achondroplasia Research Paper

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The baby's genetic disease is a form of dwarfism known as achondroplasia. It is an autosomal dominant gene located on chromosome 4. The gene, FGFR3, "makes a protein called fibroblast growth factor receptor 3 that is involved in converting cartilage to bone" ("Learning About Achondroplasia", 2012). This gene undergoes mutation resulting in an altered, dysfunctional version of this protein in charge of simulating cell growth. The mutation disrupts bone growth, leading to the short stature of people with achondroplasia. More than 80% of the cases of achondroplasia are due to a mutation occurring in an unaffected parent's egg or sperm before the baby is conceived while about 20% inherit the disorder from a parent who has achondroplasia. Two copies

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