PIK3CA vascular overgrowth syndromes: an update
M Hughes, M Hao, M Luu - Current Opinion in Pediatrics, 2020 - journals.lww.com
PIK3CA vascular overgrowth syndromes: an update : Current Opinion in Pediatrics PIK3CA
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …
vascular overgrowth syndromes: an update : Current Opinion in Pediatrics Log in or Register …
PIK3CA‐related overgrowth spectrum (PROS): Diagnostic and testing eligibility criteria, differential diagnosis, and evaluation
KM Keppler‐Noreuil, JJ Rios… - American journal of …, 2015 - Wiley Online Library
Somatic activating mutations in the phosphatidylinositol‐3‐kinase/AKT/mTOR pathway
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …
underlie heterogeneous segmental overgrowth phenotypes. Because of the extreme …
A review of mechanisms of disease across PIK3CA-related disorders with vascular manifestations
G Canaud, AM Hammill, D Adams, M Vikkula… - Orphanet Journal of …, 2021 - Springer
Background PIK3CA-related disorders include vascular malformations and overgrowth of
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
various tissues that are caused by postzygotic, somatic variants in the gene encoding …
Genotypes and phenotypes heterogeneity in PIK3CA-related overgrowth spectrum and overlapping conditions: 150 novel patients and systematic review of 1007 …
A Mussa, C Leoni, M Iacoviello, D Carli… - Journal of Medical …, 2023 - jmg.bmj.com
Background Postzygotic activating PIK3CA variants cause several phenotypes within the
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …
PIK3CA-related overgrowth spectrum (PROS). Variant strength, mosaicism level, specific …
When, where and which PIK3CA mutations are pathogenic in congenital disorders
A Angulo-Urarte, M Graupera - Nature Cardiovascular Research, 2022 - nature.com
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 …
mutations in PIK3CA also cause a range of congenital disorders featuring asymmetric tissue …
Vascular malformations syndromes: an update
A Martinez-Lopez, L Salvador-Rodriguez… - Current Opinion in …, 2019 - journals.lww.com
Some vascular malformations can be associated with other anomalies, such as tissue
overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic …
overgrowth. PIK3CA-related overgrowth spectrum (PROS) is a group of rare genetic …
PIK3CA-Related Overgrowth Spectrum From Diagnosis to Targeted Therapy: A Case of CLOVES Syndrome Treated With Alpelisib
A Pagliazzi, T Oranges, G Traficante, C Trapani… - Frontiers in …, 2021 - frontiersin.org
PIK3CA-related overgrowth spectrum (PROS) is an umbrella term referring to various clinical
entities, which share the same pathogenetic mechanism. These conditions are caused by …
entities, which share the same pathogenetic mechanism. These conditions are caused by …
Characterization of a severe case of PIK3CA‐related overgrowth at autopsy by droplet digital polymerase chain reaction and report of PIK3CA sequencing in 22 …
AM Piacitelli, DM Jensen… - American Journal of …, 2018 - Wiley Online Library
PIK3CA‐related overgrowth spectrum (PROS) refers to a group of disorders of segmental
overgrowth of a wide variety of tissues as well as venous and lymphatic malformations …
overgrowth of a wide variety of tissues as well as venous and lymphatic malformations …
Somatic PIK3R1 variation as a cause of vascular malformations and overgrowth
CE Cottrell, NR Bender, MT Zimmermann… - Genetics in …, 2021 - nature.com
Purpose Somatic activating variants in the PI3K-AKT pathway cause vascular malformations
with and without overgrowth. We previously reported an individual with capillary and …
with and without overgrowth. We previously reported an individual with capillary and …
Molecular and Functional Characterization of Three Different Postzygotic Mutations in PIK3CA-Related Overgrowth Spectrum (PROS) Patients: Effects on PI3K/AKT …
DC Loconte, V Grossi, C Bozzao, G Forte, R Bagnulo… - PloS one, 2015 - journals.plos.org
Background PIK3CA-related overgrowth spectrum (PROS) include a group of disorders that
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …
affect only the terminal portion of a limb, such as type I macrodactyly, and conditions like …