The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report

Overview of attention for article published in Cold Spring Harbor Molecular Case Studies, April 2022

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RT @BrotmanBaty: Several BBI members authored Cold Spring Harbor case study on MCAP syndrome. Corresponding Author @ghaydamirzaa is joined…

Thanks @BrotmanBaty for supporting this work. This interesting case study was led by Dr. Wei-Liang Chen where a mosaic mutation in the mTOR pathway (PIK3CA) was detectable in CSF derived cell-free DNA - so opens up new avenues for molecular diagnostics.…

RT @mcmdotnet: The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capi…

The utility of cerebrospinal fluid–derived cell-free DNA in molecular diagnostics for the PIK3CA-related megalencephaly-capillary malformation (MCAP) syndrome: a case report https://t.co/7kSBh7HvRQ documents a case of lymphoma 🔓 #openaccess

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