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Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte–Duclos disease
Lhermitte–Duclos disease (LDD) is a rare cerebellar disorder believed to be pathognomonic for Cowden syndrome. Presently, the only known etiology is germline PTEN mutation. We report a 41-yr-old white female diagnosed with LDD and wild-type for PTEN. Exome sequencing revealed a germline heterozygous...
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| Publicado no: | Cold Spring Harb Mol Case Stud |
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| Main Authors: | , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Cold Spring Harbor Laboratory Press
2016
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5111001/ https://ncbi.nlm.nih.gov/pubmed/27900366 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a001230 |
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