EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Research Abstract Details 

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EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Abstract Text:

N Shimasaki,K Watanabe,M Hara,K Kosaki,

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.

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Publishing Authors By Initials

N Shimasaki,K Watanabe,M Hara,K Kosaki,

For similar proteins: dna-binding proteins: trans-activators research abstracts see: proteins: dna-binding proteins: trans-activators research

PUBMED ID PMID:

MEDLINE DATE: 2004 Jul-Aug

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Journal Published:

PUBLICATION TYPE: Research Support, Non-U.S. Gov

Journal: Pediatric cardiology

VOLUME: 25

Page Numbers: 411-3

Journal Abbreviation: Pediatr Cardiol

ISSN: 0172-0643

DAY: 20

MONTH: 02

YEAR: 2008

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 8003849

EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Keywords Mesh Terms:

KEYWORDS: Trans-Activators

MESH TERMS: genetics

Chemical & Substance for Abstract: EYA1 mutation in a newborn female presenting with cardiofacial syndrome. Information

Substance Name: Protein Tyrosine Phosphatases

Registry Number: EC 3.1.3.48

Grant and Affiliation Information for EYA1 mutation in a newborn female presenting with cardiofacial syndrome.

AFFILIATION: Department of Pediatrics, Shimizu City Hospital, Shimizu City, Japan.

Country: United States

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MEDLINETA: Pediatr Cardiol

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