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SNP genotyping to screen for a common deletion in CHARGE Syndrome
BACKGROUND: CHARGE syndrome is a complex of birth defects including coloboma, choanal atresia, ear malformations and deafness, cardiac defects, and growth delay. We have previously hypothesized that CHARGE syndrome could be caused by unidentified genomic microdeletion, but no such deletion was detec...
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| 主要な著者: | , , , , , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
BioMed Central
2005
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC550653/ https://ncbi.nlm.nih.gov/pubmed/15710038 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-6-8 |
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