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 …
Overgrowth syndromes, diagnosis and management
SD Klein, A Nisbet, JM Kalish - Current opinion in pediatrics, 2023 - journals.lww.com
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics Log in or …
Overgrowth syndromes, diagnosis and management : Current Opinion in Pediatrics Log in or …
11p15. 5 epimutations in children with Wilms tumor and hepatoblastoma detected in peripheral blood
Background Constitutional or somatic mosaic epimutations are increasingly recognized as a
mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith‐Wiedemann …
mechanism of gene dysregulation resulting in cancer susceptibility. Beckwith‐Wiedemann …
Improved molecular detection of mosaicism in Beckwith-Wiedemann Syndrome
SW Baker, KA Duffy, J Richards-Yutz… - Journal of medical …, 2021 - jmg.bmj.com
Background Beckwith-Wiedemann Syndrome (BWS) is characterised by overgrowth and
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
tumour predisposition. While multiple epigenetic and genetic mechanisms cause BWS, the …
Detailed analysis of phenotypes and genotypes in megalencephaly-capillary malformation-polymicrogyria syndrome caused by somatic mosaicism of PIK3CA …
HJ Park, CH Shin, WJ Yoo, TJ Cho, MJ Kim… - Orphanet Journal of …, 2020 - Springer
Background Megalencephaly-capillary malformation-polymicrogyria syndrome (MCAP)
belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS) …
belongs to a group of conditions called the PIK3CA-related overgrowth spectrum (PROS) …
Diagnostic utility of next-generation sequencing for disorders of somatic mosaicism: a five-year cumulative cohort
SN McNulty, MJ Evenson, MM Corliss… - The American Journal of …, 2019 - cell.com
Disorders of somatic mosaicism (DoSM) are a diverse group of syndromic and non-
syndromic conditions caused by mosaic variants in genes that regulate cell survival and …
syndromic conditions caused by mosaic variants in genes that regulate cell survival and …
Genetic mutations and phenotype characteristics in peripheral vascular malformations: A systematic review
MLE Stor, SER Horbach, MM Lokhorst… - Journal of the …, 2024 - Wiley Online Library
Vascular malformations (VMs) are clinically diverse with regard to the vessel type,
anatomical location, tissue involvement and size. Consequently, symptoms and disease …
anatomical location, tissue involvement and size. Consequently, symptoms and disease …
Mosaic RASopathies: A review of disorders caused by somatic pathogenic variants in the genes of the RAS/MAPK pathway
D Carli, N Resta, GB Ferrero… - American Journal of …, 2022 - Wiley Online Library
Mosaic RASopathies are a heterogeneous group of diseases characterized by the presence
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
at birth or early onset of congenital anomalies, cutaneous and vascular anomalies …
Clinical and genetic analyses of patients with lateralized overgrowth
YM Kim, Y Lee, Y Choi, IH Choi, SH Heo, JM Choi… - BMC Medical …, 2022 - Springer
Background The genetic features and treatment strategies of lateralized overgrowth have
been elusive. We performed this study to analyze the genetic characteristics and treatment …
been elusive. We performed this study to analyze the genetic characteristics and treatment …
A review on cutaneous and musculoskeletal manifestations of CLOVES syndrome
E Öztürk Durmaz, D Demircioğlu… - Clinical, cosmetic and …, 2022 - Taylor & Francis
CLOVES syndrome is a novel sporadic mosaic segmental overgrowth syndrome, currently
categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All …
categorized under the canopy of PROS (PIK3CA-related overgrowth spectrum) disorders. All …