| Detection of CHD7 deletions by MLPA in CHARGE syndrome patients with a less typical phenotype. | |
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MedLine Citation:
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PMID: 19248844 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Bergman et al. performed a search for exon copy number alterations in the CHD7 gene using MLPA in CHARGE syndrome patients who did not have a CHD7 mutation. Based on their results they recommended to extend testing using MLPA solely in individuals with a typical CHARGE syndrome phenotype. However, since we have found deletions comprising the CHD7 gene in three patients with a less typical phenotype we recommend performing MLPA testing in all CHARGE syndrome patients without causal CHD7 mutations. |
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Authors:
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Josephine Wincent; Astrid Schulze; Jacqueline Schoumans |
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Publication Detail:
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Type: Comment; Letter Date: 2009-02-25 |
Journal Detail:
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Title: European journal of medical genetics Volume: 52 ISSN: 1878-0849 ISO Abbreviation: Eur J Med Genet Publication Date: 2009 Jul-Aug |
Date Detail:
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Created Date: 2009-07-27 Completed Date: 2009-11-02 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101247089 Medline TA: Eur J Med Genet Country: Netherlands |
Other Details:
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Languages: eng Pagination: 271-2 Citation Subset: IM |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Coloboma
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genetics* DNA Helicases / genetics* DNA Mutational Analysis* DNA-Binding Proteins / genetics* Ear / abnormalities* Exons Heart Defects, Congenital / genetics* Humans Mental Retardation / genetics* Nucleic Acid Amplification Techniques* Phenotype Sequence Deletion / genetics* Syndrome |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 5.99.-/CHD7 protein, human |
| Comments/Corrections | |
Comment On:
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Eur J Med Genet. 2008 Sep-Oct;51(5):417-25
[PMID:
18472328
]
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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