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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Detalles Bibliográficos
Autores principales: Colby, Samantha, Yehia, Lamis, Niazi, Farshad, Chen, JinLian, Ni, Ying, Mester, Jessica L., Eng, Charis
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cold Spring Harbor Laboratory Press 2016
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111001/
https://www.ncbi.nlm.nih.gov/pubmed/27900366
http://dx.doi.org/10.1101/mcs.a001230

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5111001/
https://www.ncbi.nlm.nih.gov/pubmed/27900366
http://dx.doi.org/10.1101/mcs.a001230

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