Neurofibromatosis 2 and Neurilemmomatosis Gene Are Identical
نویسندگان
چکیده
منابع مشابه
NF2 gene in neurofibromatosis type 2 patients.
Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder that predisposes to nervous system tumors. The schwannomin (also termed merlin) protein encoded by the NF2 gene shows a close relationship to the family of cytoskeleton-to-membrane proteins linkers ERM (ezrin-radixin-moesin proteins). Even though penetrance of the disease is >95% and no genetic heterogeneity has been described, po...
متن کاملNF1 gene and neurofibromatosis 1.
Neurofibromatosis 1 (NF1), also known as von Recklinghausen disease, is an autosomal dominant condition caused by mutations of the NF1 gene, which is located at chromosome 17q11.2. NF1 is believed to be completely penetrant, but substantial variability in expression of features occurs. Diagnosis of NF1 is based on established clinical criteria. The presentation of many of the clinical features ...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 1995
ISSN: 0022-202X
DOI: 10.1111/1523-1747.ep12613537