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...

Popoln opis

Shranjeno v:
Bibliografske podrobnosti
izdano v:Cold Spring Harb Mol Case Stud
Main Authors: Colby, Samantha, Yehia, Lamis, Niazi, Farshad, Chen, JinLian, Ni, Ying, Mester, Jessica L., Eng, Charis
Format: Artigo
Jezik:Inglês
Izdano: Cold Spring Harbor Laboratory Press 2016
Teme:
Research Article
Online dostop: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
Oznake: Označite
Brez oznak, prvi označite!

Podobne knjige/članki