Associated Papers
High depth targeted next-generation sequencing in vascular malformations.
Pakhathirathien P et al.
Human Molecular Genetics, 2025
A pilot study of next generation sequencing-liquid biopsy on cell-free DNA as a novel non-invasive diagnostic tool for Klippel-Trenaunay syndrome.
Palmieri M et al.
Vascular, 2021
Cancer-Associated PIK3CA Mutations in Overgrowth Disorders.
Madsen RR et al.
Trends in Molecular Medicine, 2018
Causal somatic mutations in urine DNA from persons with the CLOVES subgroup of the PIK3CA-related overgrowth spectrum.
Michel ME et al.
Clinical Genetics, 2018
Clinical delineation and natural history of the PIK3CA-related overgrowth spectrum.
Keppler-Noreuil KM et al.
American Journal of Medical Genetics. Part A, 2014
De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.
Rivière JB et al.
Nature Genetics, 2012
PIK3CA Mutational Analysis in Patients With Macrodactyly.
Becker J et al.
Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 0
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