Qualitative research with patients and caregivers of patients with PIK3CA related overgrowth spectrum: content validity of clinical outcome assessments

• Autori principali: Kimberly Raymond (Autore), Susan Vallow (Autore), Cory Saucier (Autore), Kristi Jackson (Autore), Michelle K. White (Autore), Andrew Lovley (Autore), Denise D'Alessio (Autore)
• Natura: Libro
• Pubblicazione: SpringerOpen, 2022-07-01T00:00:00Z.
• Soggetti: article
• Accesso online: Connect to this object online.

Abstract Background PIK3CA-Related Overgrowth Spectrum (PROS) are rare syndromes caused by a mutation in the PIK3CA gene, including fibroadipose hyperplasia or overgrowth; congenital lipomatous overgrowth, vascular malformations, epidermal nevi, scoliosis/skeletal and spinal (CLOVES); megalencephaly...