Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Chiara Leoni; Roberta Onesimo; Nicoletta Resta; Maria Letizia Patti; Rita De Santis; Rosanna Bagnulo; Luca Russo; Riccardo Manfredi; Maurizio Genuardi; Giuseppe Zampino

doi:10.1111/cge.13550

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Chiara Leoni
, Roberta Onesimo
, Nicoletta Resta
, Maria Letizia Patti
, Rita De Santis
, Rosanna Bagnulo
, Luca Russo
, Riccardo Manfredi
, Maurizio Genuardi
, Giuseppe Zampino

University of Bari

Risultato della ricerca: Contributo in rivista › Articolo

1 Citazioni (Scopus)

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.

Lingua originale	Inglese
pagine (da-a)	1-10
Numero di pagine	10
Rivista	Clinical Genetics
Volume	2019
DOI	https://doi.org/10.1111/cge.13550
Stato di pubblicazione	Pubblicato - 2019

Keywords

Sirolimus

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10.1111/cge.13550

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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.",

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author = "Chiara Leoni and Roberta Onesimo and Nicoletta Resta and Patti, \{Maria Letizia\} and \{De Santis\}, Rita and Rosanna Bagnulo and Luca Russo and Riccardo Manfredi and Maurizio Genuardi and Giuseppe Zampino",

year = "2019",

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AU - Leoni, Chiara

AU - Onesimo, Roberta

AU - Resta, Nicoletta

AU - Patti, Maria Letizia

AU - De Santis, Rita

AU - Bagnulo, Rosanna

AU - Russo, Luca

AU - Manfredi, Riccardo

AU - Genuardi, Maurizio

AU - Zampino, Giuseppe

PY - 2019

Y1 - 2019

N2 - 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.

AB - 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.

KW - Sirolimus

UR - http://hdl.handle.net/10807/135678

U2 - 10.1111/cge.13550

DO - 10.1111/cge.13550

M3 - Article

SN - 0009-9163

VL - 2019

SP - 1

EP - 10

JO - Clinical Genetics

JF - Clinical Genetics

ER -

Old treatments for new genetic conditions: Sirolimus therapy in a child affected by mosaic overgrowth with fibroadipose hyperplasia.

Abstract

Keywords

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