The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006188
Abstract: The megalencephaly-capillary malformation (MCAP) syndrome is an overgrowth disorder caused by mosaic gain-of-function variants in PIK3CA. It is characterized by megalencephaly or hemimegalencephaly, vascular malformations, somatic overgrowth, among other features. Epilepsy is commonly associated with… read more here.
Keywords: mcap syndrome; megalencephaly capillary; mcap; report ... See more keywords
Abstract 2068: MCAP Explore: A self-service data exploration and cohort building tool for oncologists
Sign Up to like & getrecommendations! Published in 2023 at "Cancer Research"
DOI: 10.1158/1538-7445.am2023-2068
Abstract: The goal of the described work was to create a self-service tool for data exploration and cohort creation, facilitating feasibility assessments for research studies and providing insights into the primary clinical and demographic characteristics of… read more here.
Keywords: oncology; tool; mcap; self service ... See more keywords