Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma.
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| Title: | Sensitive detection of FGFR1 N546K mosaic mutation in patient with encephalocraniocutaneous lipomatosis and pilocytic astrocytoma. |
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| Authors: | Kordacka J; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Zakrzewski K; Department of Neurosurgery, Polish Mother Memorial Hospital Research Institute in Lodz, Lodz, Poland., Gruszka R; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Witusik-Perkowska M; Department of Medical Biochemistry, Medical University of Lodz, Lodz, Poland., Taha J; Department of Pediatrics, Oncology and Hematology, Medical University of Lodz, Lodz, Poland., Sikorska B; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Liberski PP; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland., Zakrzewska M; Department of Molecular Pathology and Neuropathology, Medical University of Lodz, Lodz, Poland. |
| Source: | American journal of medical genetics. Part A [Am J Med Genet A] 2019 Aug; Vol. 179 (8), pp. 1622-1627. Date of Electronic Publication: 2019 Jun 07. |
| Publication Type: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| Journal Info: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| ISSN: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.61256 |
