Sindrome von recklinghausen pdf

It borders the rural munsterland and is characterized by large fields and farms in the north and industry in the south. Areas of abnormal skin pigmentation typically include pale tan or light brown discolorations. Oct 31, 2019 neurofibromatosis is a genetic disorder of the nervous system. Recklinghausen is the 60thlargest city in germany and the 22ndlargest city in north rhinewestphalia. Clinically characterized by abnormalities in the skin, neurofibromas, optic pathway tumors, brain, digestive tract, heart malformations and bone disorders. Lisboa introducao resumo a neurofibromatose e uma doenca multissistemica na qual as possiveis multiplas manifestacoes. It is transmitted by autosomal dominant inheritance and its penetrance is almost complete by 5 years of age. The term neurofibromatosis nf is used for a group of genetic disorders that primarily affect the cell growth of neural tissues.

Nf1 causes tumors along the nervous system which can grow anywhere on the body. Neurofibromatosis 1 nord national organization for rare. The nf1 gene responsible for the disease is located. Neurofibromatosis type i nf1 is a complex multisystem human disorder caused by the mutation of a gene on chromosome 17 that is responsible for production of a protein called neurofibromin which is needed for normal function in many human cell types. Neurofibromatosis tipo 1 genetic and rare diseases.

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