Title: Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and coexisted pilocytic astrocytoma
Authors: Kordacka J, Zakrzewsk K, Gruszka R, Witusik-Perkowska M, Taha J, Sikorska B, Liberski PP, Zakrzewska M
Journal: American Journal of Medical Genetics: Part A
Publication type: article
DOI: 10.1002/ajmg.a.61256.