Pathology

 germline mutations in neurofibromatosis type 1

• NF1 microdeletions (40% of somatic mosaicism) (NF1 mosaic deletions) with somatic recombination of the JJAZ1 gene (#15257518#)

References

 Costa RM, Silva AJ. Mouse models of neurofibromatosis type I: bridging the GAP. Trends Mol Med. 2003 Jan;9(1):19-23. PMID: #12524206#

 Gutmann DH. The neurofibromatoses: when less is more. Hum Mol Genet. 2001 Apr;10(7):747-55. PMID: #11257108#

 Reed N, Gutmann DH. Tumorigenesis in neurofibromatosis: new insights and potential therapies. Trends Mol Med. 2001 Apr;7(4):157-62. PMID: #11286939#