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Mutations in PDGFRB and NOTCH3 are the first genetic causes identified for autosomal dominant infantile myofibromatosis
Author(s) -
Lee JW
Publication year - 2013
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/cge.12238
Subject(s) - pdgfrb , genetics , mutation , biology , gene
A recurrent PDGFRB mutation causes familial infantile myofibromatosis Cheung et al. (2013) The American Journal of Human Genetics 92: 996–1000. Mutations in PDGFRB cause autosomal‐dominant infantile myofibromatosis Martignetti et al. (2013) The American Journal of Human Genetics 92: 1001–1007.