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Noonan syndrome with multiple lentigines
- Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome) is a condition that affects many areas of the body. As the condition name suggests, ...
- Noonan syndrome with multiple lentigines (NSML) is a rare inherited disorder. People with this condition have problems with the skin, head ...
- ... the PTPN11 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized ... account for approximately 65 percent of cases of Noonan syndrome with multiple lentigines caused by PTPN11 gene mutations change single protein ...
- ... the RAF1 gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized ... or L613V).The RAF1 gene changes that cause Noonan syndrome with multiple lentigines are believed to abnormally activate the RAF1 protein, ...
- ... the MAP2K1 gene has been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized ... and tissues, resulting in the characteristic features of Noonan syndrome with multiple lentigines.It is unclear why the E102G mutation causes ...
- ... the BRAF gene have been found to cause Noonan syndrome with multiple lentigines (formerly called LEOPARD syndrome). This condition is characterized ... or L245F).The BRAF gene changes that cause Noonan syndrome with multiple lentigines are believed to abnormally activate the BRAF protein, ...
- ... Costello syndrome, neurofibromatosis type 1, Legius syndrome, and Noonan syndrome with multiple lentigines. Noonan syndrome occurs in approximately 1 in 1, ...
- Skin Pigmentation Disorders (National Library of Medicine)Pigmentation means coloring. Skin pigmentation disorders affect the color of your skin. Your skin gets its color from a pigment called melanin. Special cells in the ...
- Genetic Disorders (National Library of Medicine)Genes are the building blocks of heredity. They are passed from parent to child. They hold DNA, the instructions for making proteins. Proteins do most of the ...
- Noonan Syndrome (For Parents) (Nemours Foundation)... syndrome, Costello syndrome, neurofibromatosis type 1, Legius syndrome, Noonan syndrome with multiple lentigines, familial Turner syndrome, female pseudo-Turner syndrome, male ...