Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome-Reference-Cited by-同舟云学术

Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome

Published:2010-09 Issue:5 Volume:53 Page:280-285
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Wessels Kathrin,Bohnhorst Bettina,Luhmer Ingrid,Morlot Susanne,Bohring Axel,Jonasson Jon,Epplen Jörg T.,Gadzicki Dorothea,Glaser Stefanie,Göhring Gudrun,Mälzer Madeleine,Hein Anke,Arslan-Kirchner Mine,Stuhrmann Manfred,Schmidtke Jörg,Pabst Brigitte

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference32 articles.

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2. Phenotypic spectrum of CHARGE syndrome with CHD7 mutations;Aramaki;J. Pediatr.,2006

3. Screening for CHARGE syndrome mutations in the CHD7 gene using denaturing high- performance liquid chromatography;Aramaki;Genet. Test.,2006

4. Exon copy number alterations of the CHD7 gene are not a major cause of CHARGE and CHARGE-like syndrome;Bergman;Eur. J. Med. Genet.,2008

5. CHARGE association: an update and review for the primary paediatrician;Blake;Clin. Pediatr.,1998

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