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Updated nomenclature for human and mouse neurofibromatosis type 1 genes

27 Jul 2017

Abstract excerpt

Neurofibromatosis type 1 (NF1; OMIM 162200) is one of the most common neurogenetic conditions, affecting 1 in 3,000 people worldwide. Characterized by a propensity to develop nervous system tumors, learning and behavioral deficits, and pigmentary abnormalities, NF1 is caused by a germline sequence alteration in the NF1 gene (OMIM: 613113; chromosome 17q11.2). In addition, somatic NF1 sequence changes have been...

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PMID: 28804759
DOI: 10.1212/nxg.0000000000000169

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