Read Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

Meena Upadhyaya

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Description:Neurofibromatosis type 1 (NF1) is a common autosomaldominantly inherited tumour predisposition syndrome affecting 1/3000-4000 individuals worldwide (Huson et al., 1988; Lammert et al., 2005). This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. NF1 manifests a variety of characteristic clinical features, including hyperpigmentary abnormalities of the skin (cafe-au-lait macules and inguinal/axillary freckling), iris hamartomas (Lisch nodules) and the growth of benign peripheral nerve sheath tumours (neurofibromas) in the skin. These neurofibromas display several different subtypes and are associated with a variety of clinical complications. Cutaneous neurofibromas are discrete small dermal tumours observed in almost all adult NF1 patients. The usually much larger plexiform neurofibromas (PNFs), a more diffuse tumour type, are present in 30-50% of NF1 patients, and, importantly, some 10-15% of these benign tumours subsequently become transformed into aggressive malignant peripheral nerve sheath tumours (MPNSTs), the main cause of morbidity in NF1.We have made it easy for you to find a PDF Ebooks without any digging. And by having access to our ebooks online or by storing it on your computer, you have convenient answers with Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1. To get started finding Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1, you are right to find our website which has a comprehensive collection of manuals listed.
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Pages: 120

Format: PDF, EPUB & Kindle Edition

Publisher: Morgan & Claypool

Release: 2014

ISBN: 1615046453

Description: Neurofibromatosis type 1 (NF1) is a common autosomaldominantly inherited tumour predisposition syndrome affecting 1/3000-4000 individuals worldwide (Huson et al., 1988; Lammert et al., 2005). This inherited disorder results from the mutational inactivation of the NF1 gene on human chromosome 17. NF1 manifests a variety of characteristic clinical features, including hyperpigmentary abnormalities of the skin (cafe-au-lait macules and inguinal/axillary freckling), iris hamartomas (Lisch nodules) and the growth of benign peripheral nerve sheath tumours (neurofibromas) in the skin. These neurofibromas display several different subtypes and are associated with a variety of clinical complications. Cutaneous neurofibromas are discrete small dermal tumours observed in almost all adult NF1 patients. The usually much larger plexiform neurofibromas (PNFs), a more diffuse tumour type, are present in 30-50% of NF1 patients, and, importantly, some 10-15% of these benign tumours subsequently become transformed into aggressive malignant peripheral nerve sheath tumours (MPNSTs), the main cause of morbidity in NF1.We have made it easy for you to find a PDF Ebooks without any digging. And by having access to our ebooks online or by storing it on your computer, you have convenient answers with Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1. To get started finding Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1, you are right to find our website which has a comprehensive collection of manuals listed.
Our library is the biggest of these that have literally hundreds of thousands of different products represented.

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Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

Clinical and Molecular Aspects of Phakomatoses 1: Neurofibromatosis Type 1

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