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A recurrent PDGFRB mutation causes familial infantile myofibromatosis.
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. Cheung YH, et al. Am J Hum Genet. 2013 Jun 6;92(6):996-1000. doi: 10.1016/j.ajhg.2013.04.026. Epub 2013 May 23. Am J Hum Genet. 2013. PMID: 23731537 Free PMC article.
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whole-exome sequencing, RNA sequencing, and targeted sequencing, we investigated germline and tumor DNA in individuals from four distinct fam
Infantile myofibromatosis (IM) is the most common benign fibrous tumor of soft tissues affecting young children. By using whol
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence.
Murray N, Hanna B, Graf N, Fu H, Mylène V, Campeau PM, Ronan A. Murray N, et al. Eur J Med Genet. 2017 Jul;60(7):353-358. doi: 10.1016/j.ejmg.2017.02.005. Epub 2017 Mar 9. Eur J Med Genet. 2017. PMID: 28286173
Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry. ...Mutations in the PDGFRB gene and NOTCH3 genes have been identified
Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a
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