leopard syndromes การใช้

:: Here is the article LEOPARD syndrome on wikipedia with 20 references, and here is it rendered in a pdf with 12 references:
Multiple granular cell tumors may seen in the context of " LEOPARD syndrome ", due to a mutation in the " PTPN11 gene ".
Mutations of a cell regulatory mechanism, the Ras / MAPK pathway are responsible for a variety of syndromes, including Noonan syndrome, LEOPARD syndrome, Costello syndrome and cardiofaciocutaneous syndrome in which there is cardiac involvement.
Similar mutations in c-Raf can also cause a related condition, termed LEOPARD syndrome ( Lentigo, Electrocardiographic abnormalities, Ocular hypertelorism, Pulmonary stenosis, Abnormal genitalia, Retarded growth, Deafness ), with a complex association of defects.
However, the condition may be present in association with other syndromes : Turner syndrome, Noonan syndrome, Loeys-Dietz syndrome, Marfan syndrome, Ehlers-Danlos syndrome, Morquio syndrome, trisomy 18, trisomy 21, homocystinuria, osteogenesis imperfecta, multiple lentigines syndrome ( LEOPARD syndrome ), Sly syndrome ( mucopolysaccharidosis type VII ), and scoliosis.