Document Detail


Segmental overgrowth syndrome due to an activating PIK3CA mutation identified in affected muscle tissue by exome sequencing.
MedLine Citation:
PMID:  24665065     Owner:  NLM     Status:  Publisher    
Abstract/OtherAbstract:
Mosaic PIK3CA-mutations have been described in an increasing number of overgrowth syndromes. We describe a patient with a previously unreported segmental overgrowth syndrome with the mutation, PIKCA3 c.3140A>G (p.His1047Arg) in affected tissue diagnosed by exome sequencing. This PIK3CA-associated segmental overgrowth syndrome overlaps with CLOVES syndrome and fibroadipose hyperplasia but is distinct from each of these entities. © 2014 Wiley Periodicals, Inc.
Authors:
Maria Rasmussen; Lone Sunde; Karen Petra Weigert; Pauline Wilhemina Bogaard; Dorte L Lildballe
Related Documents :
25030565 - Long-term pharmacological therapy of brugada syndrome: is j-wave attenuation a marker o...
23955615 - A novel scn5a mutation demonstrating a variety of clinical phenotypes in familial sick ...
1195505 - Intussusception in a florida manatee.
3575615 - Classification of depressive states.
18088965 - The foregut-ossicle system of dromia wilsoni, dromia personata and lauridromia intermed...
19568185 - Gardner syndrome with no clinical family history.
Publication Detail:
Type:  JOURNAL ARTICLE     Date:  2014-3-24
Journal Detail:
Title:  American journal of medical genetics. Part A     Volume:  -     ISSN:  1552-4833     ISO Abbreviation:  Am. J. Med. Genet. A     Publication Date:  2014 Mar 
Date Detail:
Created Date:  2014-3-25     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101235741     Medline TA:  Am J Med Genet A     Country:  -    
Other Details:
Languages:  ENG     Pagination:  -     Citation Subset:  -    
Copyright Information:
© 2014 Wiley Periodicals, Inc.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Descriptor/Qualifier:

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


Previous Document:  Loss of SMAD4 staining in pre-operative cell blocks is associated with distant metastases following ...
Next Document:  Effect of Various Intercalators on the Fenton-Type Oxidative Cleavage of Double-Stranded DNA.