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

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 wit...

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Detalles Bibliográficos
Autores principales: Chen, Wei-Liang, Pao, Emily, Owens, James, Glass, Ian, Pritchard, Colin, Shirts, Brain H., Lockwood, Christina, Mirzaa, Ghayda M.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2022
Materias:
Research Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059787/
https://www.ncbi.nlm.nih.gov/pubmed/35483878
http://dx.doi.org/10.1101/mcs.a006188

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9059787/
https://www.ncbi.nlm.nih.gov/pubmed/35483878
http://dx.doi.org/10.1101/mcs.a006188

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