Radial aplasia in CHARGE syndrome: A new association

Abstract CHARGE syndrome affects up to 1 in 8500 births, and is most commonly due to de novo truncating mutations in the CHD7 gene. In addition to the 4 major (choanal atresia, coloboma, cranial nerve dysfunction and characteristic ear abnormalities) and 7 minor features (genital hypoplasia, develop...

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Veröffentlicht in:	European journal of medical genetics 2009-07, Vol.52 (4), p.239-241
Hauptverfasser:	Wright, E.M.M. Burkitt, O'Connor, R, Kerr, B.A
Format:	Artikel
Sprache:	eng
Schlagworte:	Abnormalities, Multiple - genetics Adolescent Biological and medical sciences CHARGE syndrome CHD7 gene Choanal Atresia - genetics Coloboma - genetics DNA Helicases - genetics DNA-Binding Proteins - genetics Ear - abnormalities Exons Female Frameshift Mutation Fundamental and applied biological sciences. Psychology General aspects. Genetic counseling Genetics of eukaryotes. Biological and molecular evolution Growth Disorders - genetics Heart Defects, Congenital - genetics Humans Limb defects Medical Education Medical genetics Medical sciences Pregnancy Radial aplasia Radius - abnormalities Sequence Analysis, DNA Severe developmental delay Syndrome Upper Extremity Deformities, Congenital - genetics
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