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This book presents in comprehensive detail the current state of knowledge of the molecular genetics, molecular biology and cellular biology of NF1, one of the most common dominantly inherited human disorders, which affects 1 in 3000 individuals worldwide.

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 (caf -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...