Title |
The spectrum of infantile myofibromatosis includes both non-penetrance and adult recurrence
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Published in |
European Journal of Medical Genetics, March 2017
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DOI | 10.1016/j.ejmg.2017.02.005 |
Pubmed ID | |
Authors |
Natalia Murray, B. Hanna, Nicole Graf, He Fu, Veronneau Mylène, P.M. Campeau, Anne Ronan |
Abstract |
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. We present two families with molecularly confirmed germline mutations in the PDGFRB gene, one demonstrating a phenotype ranging from complete non-penetrance to neonatal lethality; and the other illustrating adult recurrence of the tumors. |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Unknown | 16 | 100% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Other | 5 | 31% |
Student > Bachelor | 2 | 13% |
Researcher | 2 | 13% |
Student > Ph. D. Student | 1 | 6% |
Student > Doctoral Student | 1 | 6% |
Other | 2 | 13% |
Unknown | 3 | 19% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 6 | 38% |
Biochemistry, Genetics and Molecular Biology | 4 | 25% |
Nursing and Health Professions | 1 | 6% |
Unknown | 5 | 31% |