The DOI matches its Crossref record; 83 of the 83 references it cites were found in a registry or an index.
Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome
Open accessAbstract
CHARGE syndrome [coloboma of the eye, heart defects, atresia of the choanae, retardation of growth and/or development, genital and/or urinary abnormalities, and ear abnormalities (including deafness)] is a genetic disorder characterized by a specific and a recognizable pattern of anomalies. De novo mutations in the gene encoding chromodomain helicase DNA binding protein 7 (CHD7) are the major cause of CHARGE syndrome. Here, we review the clinical features of 379 CHARGE patients who tested positive or negative for mutations in CHD7. We found that CHARGE individuals with CHD7 mutations more commonly have ocular colobomas, temporal bone anomalies (semicircular canal hypoplasia/dysplasia), and facial nerve paralysis compared with mutation negative individuals. We also highlight recent genetic and genomic studies that have provided functional insights into CHD7 and the pathogenesis of CHARGE syndrome. © 2010 Wiley‐Liss, Inc.
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Cites
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Cited by
Pierpont, M. E., Brueckner, M., Chung, W. K., Garg, V., Lacro, R. V., McGuire, A. L., Mital, S., Priest, J. R., Pu, W. T., Roberts, A., et al. (2018) · Circulation · doi:10.1161/cir.0000000000000606 · Cited by 654
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Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
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The NuRD complex in neurodevelopment and disease: a case of sliding doors
Boulasiki, P., Tan, X. W., Spinelli, M., & Riccio, A. (2023) · Cells · doi:10.3390/cells12081179 · Cited by 22
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Metadata
- Authors
- Zentner, G. E., Layman, W. S., Martin, D. M., & Scacheri, P. C.
- Venue
- American Journal of Medical Genetics Part A
- Publisher
- Wiley
- Published
- 2010-02-22
- Volume
- 152A
- Issue
- 3
- Pages
- 674-686
- ISSN
- 1552-4825 (ISSN-L)
- 1552-4833
- OpenAlex
- W2085916218
- Cited by
- 313
- References
- 83
- FWCI
- 10.50
- Type
- journal article
- Language
- en
- Open access
- green
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- Zentner, G. E., Layman, W. S., Martin, D. M., & Scacheri, P. C. (2010). Molecular and phenotypic aspects of CHD7 mutation in CHARGE syndrome. American Journal of Medical Genetics Part A. https://doi.org/10.1002/ajmg.a.33323
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