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@ARTICLE{Pudig:302828,
      author       = {L. Pudig and S. Lassmann and S. Jacob and M.
                      Nastainczyk-Wulf and A. Haak and M. Werner$^*$ and F. G.
                      Kapp and S. Hettmer},
      title        = {{I}nfantile myofibromatosis and capillary malformation of
                      the skin due to {PDGFRB} mosaicism.},
      journal      = {Molecular and Cellular Pediatrics},
      volume       = {12},
      number       = {1},
      issn         = {2194-7791},
      address      = {Heidelberg ˜[u.a.]œ},
      publisher    = {SpringerOpen},
      reportid     = {DKFZ-2025-01368},
      pages        = {10},
      year         = {2025},
      abstract     = {This report describes the case of a 25-year-old female
                      patient with multicentric infantile myofibromatosis since
                      early infancy, superficial capillary malformations and
                      congenital hypoplasia of the third and fourth finger of her
                      right hand. All known lesions were located in the upper
                      extremities, the chest and the upper back. A pathogenic,
                      gain-of-function platelet-derived growth factor
                      receptor-beta (PDGFRB) variant (p.N666K, c.1998 C > A) was
                      detected in two myofibromas and in a capillary malformation
                      on the upper back, but not in DNA obtained from blood
                      mononuclear cells. Thus, PDGFRB mosaicism appears to account
                      for the patient's myofibromas and capillary malformations,
                      supporting a broad spectrum of PDGFRB-driven anomalies
                      ranging from myofibromas to vascular malformations.},
      subtyp        = {Review Article},
      cin          = {FR01},
      ddc          = {610},
      cid          = {I:(DE-He78)FR01-20160331},
      pnm          = {899 - ohne Topic (POF4-899)},
      pid          = {G:(DE-HGF)POF4-899},
      typ          = {PUB:(DE-HGF)16},
      pubmed       = {pmid:40632343},
      pmc          = {pmc:PMC12240887},
      doi          = {10.1186/s40348-025-00197-x},
      url          = {https://inrepo02.dkfz.de/record/302828},
}