Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. Issue 1 (22nd April 2019)
- Record Type:
- Journal Article
- Title:
- Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia. Issue 1 (22nd April 2019)
- Main Title:
- Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia
- Authors:
- Leoni, Chiara
Onesimo, Roberta
Resta, Nicoletta
Patti, Maria L.
De Santis, Rita
Bagnulo, Rosanna
Russo, Luca
Manfredi, Riccardo
Genuardi, Maurizio
Zampino, Giuseppe - Abstract:
- Abstract : 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.
- Is Part Of:
- Clinical genetics. Volume 96:Issue 1(2019)
- Journal:
- Clinical genetics
- Issue:
- Volume 96:Issue 1(2019)
- Issue Display:
- Volume 96, Issue 1 (2019)
- Year:
- 2019
- Volume:
- 96
- Issue:
- 1
- Issue Sort Value:
- 2019-0096-0001-0000
- Page Start:
- 102
- Page End:
- 103
- Publication Date:
- 2019-04-22
- Subjects:
- Medical genetics -- Periodicals
616.0420 - Journal URLs:
- http://www.blackwell-synergy.com/loi/cge ↗
http://onlinelibrary.wiley.com/ ↗ - DOI:
- 10.1111/cge.13550 ↗
- Languages:
- English
- ISSNs:
- 0009-9163
- Deposit Type:
- Legaldeposit
- View Content:
- Available online (eLD content is only available in our Reading Rooms) ↗
- Physical Locations:
- British Library DSC - 3286.287000
British Library DSC - BLDSS-3PM
British Library STI - ELD Digital store - Ingest File:
- 10886.xml