mutation in the FGFR1 gene

Mutations in the FGFR1 gene can lead to changes in how the body grows and develops. The FGFR1 gene provides instructions for making a protein involved in the formation of bones, tissues, and organs. When this gene is mutated, it can cause abnormal signaling that affects cell growth and development. Such mutations are linked to various conditions, including certain types of cancer, growth disorders, and craniofacial abnormalities. Understanding these mutations is important for diagnosing diseases and developing potential treatments.