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ID 114828
Author
Kawase, Yuriko Toshiba Central Hospital
Keywords
Cowden syndrome
PTEN gene
novel missense mutation
Content Type
Journal Article
Description
Cowden syndrome (CS) is an autosomal dominant inherited disorder characterized by macrocephaly and multiple hamartomas. The responsible gene is PTEN (phosphate and tensin homolog detected on chromosome 10), which negatively regulates cell proliferation and survival. We herein present a 46-year-old woman with the typical clinical features of CS. A DNA sequencing analysis of the coding regions and flanking introns of the PTEN gene revealed a novel heterozygous mutation (c.403A > G, p.Ile135Val) in exon 5 that had not been previously reported in CS. J. Med. Invest.
Journal Title
The Journal of Medical Investigation
ISSN
13496867
13431420
NCID
AA12022913
AA11166929
Publisher
Tokushima University Faculty of Medicine
Volume
67
Issue
1-2
Start Page
200
End Page
201
Sort Key
200
Published Date
2020-02
DOI (Published Version)
URL ( Publisher's Version )
FullText File
language
eng
TextVersion
Publisher
departments
Medical Sciences