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CHARGE syndrome: an update

European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.389-399 [Peer Reviewed Journal]

2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439

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Title:
CHARGE syndrome: an update
Author: SANLAVILLE, Damien ; VERLOES, Alain
Subjects: Abnormalities, Multiple - genetics ; Biological and medical sciences ; Central Nervous System Diseases - congenital ; CHARGE syndrome ; Choanal atresia ; Choanal Atresia - genetics ; Chromosome Disorders - genetics ; Coloboma - genetics ; Congenital diseases ; Craniofacial Abnormalities - genetics ; Diagnosis ; DNA Helicases - genetics ; DNA-Binding Proteins - genetics ; Female ; Fundamental and applied biological sciences. Psychology ; General aspects. Genetic counseling ; Genetics ; Genetics of eukaryotes. Biological and molecular evolution ; Growth Disorders - congenital ; Growth Disorders - genetics ; Heart Defects, Congenital - genetics ; Hereditary diseases ; Holoprosencephaly ; Holoprosencephaly - genetics ; Humans ; Male ; Medical genetics ; Medical sciences ; Molecular and cellular biology ; Mutation ; Mutation - genetics ; Patients ; Pregnancy ; Prenatal Diagnosis ; Semicircular canals ; Syndrome ; Vestibular Diseases - congenital ; Vestibular Diseases - genetics
Is Part Of: European journal of human genetics : EJHG, 2007-04, Vol.15 (4), p.389-399
Description: 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.
Publisher: Avenel, NJ: Nature Publishing
Language: English
Identifier: ISSN: 1018-4813
EISSN: 1476-5438
DOI: 10.1038/sj.ejhg.5201778
PMID: 17299439
Source: Geneva Foundation Free Medical Journals at publisher websites
AUTh Library subscriptions: ProQuest Central
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CHARGE syndrome: an update

2007 INIST-CNRS ;Copyright Nature Publishing Group Apr 2007 ;ISSN: 1018-4813 ;EISSN: 1476-5438 ;DOI: 10.1038/sj.ejhg.5201778 ;PMID: 17299439

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