Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia
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DOI: 10.18632/oncotarget.13932
Abstract: Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase… read more here.
Keywords: nf1 gene; family; tibial pseudarthrosis; lait spots ... See more keywords