| 1 | IMF1, PDGFRB
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| A Recurrent PDGFRB Mutation Causes Familial Infantile Myofibromatosis.
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| Cheung YH, Gayden T, Campeau PM, Leduc CA, Russo D, Nguyen VH, Guo J, Qi M, Guan Y, Albrecht S, Moroz B, Eldin KW, Lu JT, Schwartzentruber J, Malkin D, Berghuis AM, Emil S, Gibbs RA, Burk DL, Vanstone M, Lee BH, Orchard D, Boycott KM, Chung WK, Jabado N.
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| Am J Hum Genet m J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00213-9. 10.1016/j.ajhg.2013.04.026. [Epub ahead of print]
2013
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| 2 | IMF1, IMF2, NOTCH3, PDGFRB
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| Mutations in PDGFRB Cause Autosomal-Dominant Infantile Myofibromatosis.
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| Martignetti JA, Tian L, Li D, Ramirez MC, Camacho-Vanegas O, Camacho SC, Guo Y, Zand DJ, Bernstein AM, Masur SK, Kim CE, Otieno FG, Hou C, Abdel-Magid N, Tweddale B, Metry D, Fournet JC, Papp E, McPherson EW, Zabel C, Vaksmann G, Morisot C, Keating B, Sleiman PM, Cleveland JA, Everman DB, Zackai E, Hakonarson H.
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| Am J Hum Genet m J Hum Genet. 2013 May 22. doi:pii: S0002-9297(13)00211-5. 10.1016/j.ajhg.2013.04.024. [Epub ahead of print] 2013
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| 3 | IMF1, IMF2, NOTCH3, PDGFRB
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| Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis.
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| Lee JW.
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| Clin Genet 84(4):340-1. doi: 10.1111/cge.12238. Epub 2013 Jul 31. No abstract available.
2013
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