Exome sequencing reveals germline gain-of-function EGFR mutation in an adult with Lhermitte–Duclos disease
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چکیده
منابع مشابه
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 EGFR mutation that breaks a disulfide bond in the receptor's extracellular domain, resulting in ...
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ژورنال
عنوان ژورنال: Molecular Case Studies
سال: 2016
ISSN: 2373-2865,2373-2873
DOI: 10.1101/mcs.a001230