Am J Hum Genet 2013 Jun 23;92(6):1001-7. Epub 2013 May 23.
Department of Genetics and Genomic Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Pediatrics, Mount Sinai School of Medicine, New York, NY 10029, USA; Department of Oncological Sciences, Mount Sinai School of Medicine, New York, NY 10029, USA. Electronic address:
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Am J Hum Genet 2013 Jun 23;92(6):996-1000. Epub 2013 May 23.
Department of Pediatrics, Columbia University, New York, NY 10032, USA.
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 families with the familial form of IM and in five simplex IM cases with no previous family history of this disease. We identified a germline mutation c. Read More
Genet Mol Res 2014 Aug 15;13(3):6287-92. Epub 2014 Aug 15.
Laboratório de Genômica Clínica, Faculdade de Medicina, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). Read More
Clin Genet 2013 Oct 31;84(4):340-1. Epub 2013 Jul 31.
Department of Medical Genetics, The Canadian Pharmacogenomic Network for Drug Safety (CPNDS), Center for Molecular Medicine and Therapeutics, University of British Columbia, 950 West 28th Avenue, Vancouver, British Columbia, V5Z4H4, Canada.
Eur J Med Genet 2017 Jul 9;60(7):353-358. Epub 2017 Mar 9.
Hunter Genetics, Hunter New England Local Health District, PO Box 84, Waratah, NSW, Australia 2298. Electronic address:
Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry. The condition typically presents in infancy and the tumors often disappear by the third year of life. Mutations in the PDGFRB gene and NOTCH3 genes have been identified in familial forms of the condition. Read More