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American Journal of Medical Genetics Part A, ISSN 1552-4825, 08/2019, Volume 179, Issue 8, pp. 1622 - 1627
Encephalocraniocutaneous lipomatosis (ECCL) is a rare neurocutaneous disorder, with only about 100 cases reported worldwide. It is characterized by congenital... 
ddPCR | swab | encephalocraniocutaneous lipomatosis | pilocytic astrocytoma | ECCL | FGFR1 | GENETICS & HEREDITY | Genetic disorders | Gene mutations | Analysis | Brain tumors | Genetic research | Genetic aspects | Skin | Nucleotide sequencing | DNA sequencing | Polymerase chain reaction | Brain cancer | Central nervous system | Lipomatosis | Mutation | Fibroblast growth factor receptor 1 | Astrocytoma
Journal Article
Brain Pathology, ISSN 1015-6305, 01/2018, Volume 28, Issue 1, pp. 87 - 93
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Journal Article
Acta neuropathologica communications, ISSN 2051-5960, 2015, Volume 3, Issue 1, p. 85
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