A somatic pathogenic variant in PTPN11 in a patient with vascular malformation and hemihypertrophy
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Presenting Author - Bahareh Mojarad, PhD; Co-Author - Shelbie Fishman, BA; Co-Author - Katherine King, MD; Co-Author - Bryan Sisk, MD; Co-Author - Julie A. Neidich, MD;
Meta Tag
Genetic Testing
Molecular Pathophysiology
NextGen Sequencing
Sequencing
Variant Detection
Co-Author Shelbie Fishman, BA
Co-Author Katherine King, MD
Co-Author Bryan Sisk, MD
Co-Author Julie A. Neidich, MD
Presenting Author Bahareh Mojarad, PhD
Keywords
Klippel-Trenaunay syndrome
congenital capillary malformations
venolymphatic malformations
hemihypertrophy
PTPN11 gene
SHP-2 protein
RAS/MAPK signaling cascade
somatic pathogenic variant
Noonan syndrome
disorders of somatic mosaicism (DoSM)

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