TY - JOUR AU - Aydın, Hilal PY - 2020/03/01 Y2 - 2024/03/29 TI - Right amelia in a patient with neurofibromatosis type 1 JF - Journal of Surgery and Medicine JA - J Surg Med VL - 4 IS - 3 SE - Case Report DO - 10.28982/josam.630597 UR - https://jsurgmed.com/article/view/630597 SP - 240-242 AB - <p><p>Neurofibromatosis type 1 (NF1) affects many different systems such as the skeletal, endocrine, gas-trointestinal systems, as well as the skin, peripheral and central nervous systems (CNS). The NF-1 gene, located in the 11p12 region of chromosome 17, encodes a tumor suppressor protein, called neurofibromin, and is expressed in a diverse range of cell and tissue types. Neurofibromin negatively regulates the activity of an intracellular signaling molecule, p21ras (Ras), acting as a GTPase-activating protein (Ras-GAP). The Ras-GAP function of neurofibromin has been associated with various NF1-related clinical symptoms. We aimed to present a case of clinically and genetically diagnosed neurofibromatosis type 1 with a developmental anomaly in the right hand (right hand amelia). Our knowledge about whether the coexistence of these two conditions is coincidental or a result of neurofibromatosis is limited. We wanted to present this case since the coexistence of amelia and neurofibromatosis is a first.<br /></p></p> ER -