| Radial aplasia in CHARGE syndrome: a new association. | |
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MedLine Citation:
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PMID: 19375527 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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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, developmental delay, cardiac anomalies, growth retardation, orofacial clefting, tracheo-oesophageal fistula and characteristic facies) proposed by Blake et al. [K.D. Blake, S.L.H. Davenport, B.D. Hall, M.A. Hefner, R.A. Pagon, M.S. Williams, A.E. Lin, J.M. Graham Jr., CHARGE association: an update and review for the primary pediatrician, Clin. Pediatr. (Phila) 37 (1998) 159-173.], many different features have been described in affected patients. Limb defects do not feature in the original designation of the condition, but occasional reports have noted tibial aplasia and other less severe limb anomalies. Presented here is the first case of radial aplasia in a patient with CHARGE syndrome due to a novel frameshift mutation of CHD7. |
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Authors:
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E M M Burkitt Wright; R O'Connor; B A Kerr |
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Publication Detail:
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Type: Case Reports; Journal Article Date: 2009-04-16 |
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: 239-41 Citation Subset: IM |
Affiliation:
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Medical Genetics Research Group and Regional Genetics Service, University of Manchester and Central Manchester University Hospitals Foundation Trust, St Mary's Hospital, Hathersage Road, Manchester M13 0JH, UK. |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Abnormalities, Multiple
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genetics Adolescent Choanal Atresia / genetics* Coloboma / genetics* DNA Helicases / genetics DNA-Binding Proteins / genetics Ear / abnormalities* Exons Female Frameshift Mutation Growth Disorders / genetics* Heart Defects, Congenital / genetics* Humans Pregnancy Radius / abnormalities* Sequence Analysis, DNA Syndrome Upper Extremity Deformities, Congenital / genetics* |
| Chemical | |
Reg. No./Substance:
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0/DNA-Binding Proteins; EC 3.6.1.-/DNA Helicases; EC 5.99.-/CHD7 protein, human |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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