Document Detail

CHARGE syndrome: an update.
MedLine Citation:
PMID:  17299439     Owner:  NLM     Status:  MEDLINE    
CHARGE syndrome is a rare, usually sporadic autosomal dominant disorder due in 2/3 of cases to mutations within the CHD7 gene. The clinical definition has evolved with time. The 3C triad (Coloboma-Choanal atresia-abnormal semicircular Canals), arhinencephaly and rhombencephalic dysfunctions are now considered the most important and constant clues to the diagnosis. We will discuss here recent aspects of the phenotypic delineation of CHARGE syndrome and highlight the role of CHD7 in its pathogeny. We review available data on its molecular pathology as well as cytogenetic and molecular evidences for genetic heterogeneity within CHARGE syndrome.
Damien Sanlaville; Alain Verloes
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Publication Detail:
Type:  Journal Article; Review     Date:  2007-02-14
Journal Detail:
Title:  European journal of human genetics : EJHG     Volume:  15     ISSN:  1018-4813     ISO Abbreviation:  Eur. J. Hum. Genet.     Publication Date:  2007 Apr 
Date Detail:
Created Date:  2007-03-22     Completed Date:  2007-06-22     Revised Date:  2013-02-11    
Medline Journal Info:
Nlm Unique ID:  9302235     Medline TA:  Eur J Hum Genet     Country:  England    
Other Details:
Languages:  eng     Pagination:  389-99     Citation Subset:  IM    
INSERM U781, Genetic Department, AP-HP Necker-Enfants Malades Hospital, Paris, France.
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MeSH Terms
Abnormalities, Multiple / genetics*
Central Nervous System Diseases / congenital
Choanal Atresia / genetics
Chromosome Disorders / genetics*
Coloboma / genetics
Craniofacial Abnormalities / genetics
DNA Helicases / genetics*
DNA-Binding Proteins / genetics*
Growth Disorders / congenital,  genetics
Heart Defects, Congenital / genetics
Holoprosencephaly / genetics
Mutation / genetics*
Prenatal Diagnosis
Vestibular Diseases / congenital,  genetics
Reg. No./Substance:
0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC protein, human

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