Obesity is a disorder with an increasing prevalence, which impairs the life quality of patients
and intensifies societal health care costs. The development of safe and innovative …

Please see the Editorial Comment by Geetika Khanna discussing this article. Please see the
Author Video associated with this article. Lymphatic anomalies comprise a spectrum of …

PIK3CA-related overgrowth spectrum (PROS) includes rare genetic conditions due to gain-
of-function mutations in the PIK3CA gene. There is no approved medical therapy for patients …

Purpose PIK3CA-related overgrowth spectrum (PROS) conditions of the head and neck are
treatment challenges. Traditionally, these conditions require multiple invasive interventions …

Repurposing is one of the key opportunities to address the unmet rare diseases therapeutic
need. Based on cases of drug repurposing in small population conditions, and previous …

PIK3CA encodes the class I PI3Kα isoform and is frequently mutated in cancer. Activating
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …

CLOVES syndrome is a rare congenital overgrowth disorder caused by mutations in the
phosphatidylinositol 3‐kinase catalytic subunit alpha (PIK3CA) gene. It is part of the PIK3CA …

Simple Summary Congenital lateralized or segmental overgrowth (LO) disorders are
conditions characterized by excessive tissue growth of a body region often associated with a …

This was a prospective cohort study of eighteen patients with large and debilitating vascular
malformations with one or more major systemic complications. In all patients, we discovered …

Vascular anomalies (VAs) are morphogenesis defects of the vascular system (arteries,
capillaries, veins, lymphatic vessels) singularly or in complex combinations, sometimes with …