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Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.
Leoni, Chiara; Onesimo, Roberta; Resta, Nicoletta; Patti, Maria L; De Santis, Rita; Bagnulo, Rosanna; Russo, Luca; Manfredi, Riccardo; Genuardi, Maurizio; Zampino, Giuseppe.
Afiliação
  • Leoni C; Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.
  • Onesimo R; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, Italy.
  • Resta N; Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.
  • Patti ML; Istituto di Pediatria, Università Cattolica del Sacro Cuore, Rome, Italy.
  • De Santis R; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.
  • Bagnulo R; Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.
  • Russo L; Fondazione Policlinico Universitario A. Gemelli IRCCS, Center for Rare Diseases and Birth Defects, Department of Woman and Child Health, Rome, Italy.
  • Manfredi R; Division of Medical Genetics, Department of Biomedical Sciences and Human Oncology (DIMO), University of Bari "Aldo Moro", Bari, Italy.
  • Genuardi M; Fondazione Policlinico Universitario A. Gemelli IRCCS, Radiologia Diagnostica e Interventistica Generale, Area Diagnostica per Immagini, Dipartimento Diagnostica per Immagini, Radioterapia Oncologica ed Ematologia, Rome, Italy.
  • Zampino G; Istituto di Radiologia, Università Cattolica del Sacro Cuore, Roma, Italy.
Clin Genet ; 96(1): 102-103, 2019 07.
Article em En | MEDLINE | ID: mdl-31012097
PIK3CA-related overgrowth spectrum (PROS) are overgrowth diseases involving mesenchymal tissues caused by postzygotic variants in the PIK3CA gene. Fibro-Adipose hyperplasia or Overgrowth (FAO) belongs to PROS. We reported the beneficial effect of oral low-dose sirolimus therapy in a child affected by progressive FAO in term of stabilization of the disease, good tolerability, and easy management.
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Macrossomia Fetal / Tecido Adiposo / Predisposição Genética para Doença / Sirolimo / Mosaicismo Limite: Child, preschool / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Macrossomia Fetal / Tecido Adiposo / Predisposição Genética para Doença / Sirolimo / Mosaicismo Limite: Child, preschool / Humans Idioma: En Revista: Clin Genet Ano de publicação: 2019 Tipo de documento: Article País de afiliação: Itália