| 1 | ADAP2, ATAD5, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, RNF135, SUZ12, TEFM, UTP6
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| Mutations in RNF135, a gene within the NF1 microdeletion region, cause phenotypic abnormalities including overgrowth.
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| Douglas J, Cilliers D, Coleman K, Tatton-Brown K, Barker K, Bernhard B, Burn J, Huson S, Josifova D, Lacombe D, Malik M, Mansour S, Reid E, Cormier-Daire V, Cole T; Childhood Overgrowth Collaboration, Rahman N.
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| Nat Genet 39(8):963-5. Epub 2007 Jul 15. 2007
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| 2 | ADAP2, C17orf79, CRLF3, EVI2A, EVI2B, NF1, NF1DEL, OMG, TEFM, UTP6
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| A common set of at least 11 functional genes is lost in the majority of NF1 patients with gross deletions.
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| Jenne DE, Tinschert S, Stegmann E, Reimann H, Nurnberg P, Horn D, Naumann I, Buske A, Thiel G.
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| Genomics 66(1):93-7. 2000
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| 3 | EVI2B
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| EVI2B, a gene lying in an intron of the neurofibromatosis type 1 (NF1) gene, is as the NF1 gene involved in differentiation of melanocytes and keratinocytes and is overexpressed in cells derived from NF1 neurofibromas.
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| Kaufmann D, et al.
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| DNA Cell Biol 18(5):345-56. 1999
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| 4 | EVI2B
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| cDNA sequence and genomic structure of EVI2B, a gene lying within an intron of the neurofibromatosis type 1 gene.
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| Cawthon RM, et al.
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| Genomics 9 : 446-460. 1991
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| 5 | EVI2A, EVI2B, NF1
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| Type I neurofibromatosis gene: identification of a large transcript disrupted in three NF1 patients.
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| Wallace MR, et al.
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| Science 249 : 181-186. 1990
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| 6 | EVI2A, EVI2B
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| Identification and characterization of transcripts from the neurofibromatosis 1 region : the sequence and genomic structure of EVI2 and mapping of other transcripts.
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| Cawthon RM, et al.
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| Genomics 7 : 555-565. 1990
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| 7 | EVI2A, EVI2B
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| The human homolog of murine Evi-2 lies between two von Recklinghausen neurofibromatosis translocations.
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| O'Connell P, et al.
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| Genomics 7 : 547-554. 1990
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| 8 | EVI2A, EVI2B
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| Evi-2, a common integration site involved in murine myeloid leukemogenesis.
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| Buchberg AM, et al.
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| Mol Cell Biol 10 : 4658-4666. 1990
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| 9 | EVI2A, EVI2B
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| Pulsed field mapping, chromosome jumping, and linking clone analysis in a 520kb region of chromosome 17q11.2 encompassing two neurofibromatosis (NF1) breakpoints.
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| Fountain J, et al.
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| Am J Hum Genet 45 : A186. 1989
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