Document Detail

EYA1 mutation in a newborn female presenting with cardiofacial syndrome.
MedLine Citation:
PMID:  15493068     Owner:  NLM     Status:  MEDLINE    
The combination of an asymmetric crying face and heart defect has been termed cardiofacial syndrome. This "syndrome" is etiologically heterogeneous and a subset of patients have 22q111.2 deletions. We present a female with Cayler's cardiofacial syndrome phenotype who had a frameshift mutation of the EYA1 gene. We conclude that EYA1 mutation represents a previously undescribed cause of cardiofacial syndrome.
N Shimasaki; K Watanabe; M Hara; K Kosaki
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Pediatric cardiology     Volume:  25     ISSN:  0172-0643     ISO Abbreviation:  Pediatr Cardiol     Publication Date:    2004 Jul-Aug
Date Detail:
Created Date:  2004-10-19     Completed Date:  2005-09-08     Revised Date:  2008-02-20    
Medline Journal Info:
Nlm Unique ID:  8003849     Medline TA:  Pediatr Cardiol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  411-3     Citation Subset:  IM    
Department of Pediatrics, Shimizu City Hospital, Shimizu City, Japan.
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MeSH Terms
Branchio-Oto-Renal Syndrome / genetics*
DNA Mutational Analysis
Diagnosis, Differential
Facial Asymmetry / congenital*,  genetics*
Heart Defects, Congenital / genetics*
Infant, Newborn
Intracellular Signaling Peptides and Proteins
Nuclear Proteins
Point Mutation / genetics*
Protein Tyrosine Phosphatases
Sequence Deletion / genetics
Trans-Activators / genetics*
Reg. No./Substance:
0/Intracellular Signaling Peptides and Proteins; 0/Nuclear Proteins; 0/Trans-Activators; EC protein, human; EC Tyrosine Phosphatases

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