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BAC-FISH refutes report of an 8p22–8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
BACKGROUND: Kabuki syndrome is a multiple congenital anomaly/mental retardation syndrome. The syndrome is characterized by varying degrees of mental retardation, postnatal growth retardation, distinct facial characteristics resembling the Kabuki actor's make-up, cleft or high-arched palate, bra...
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| Main Authors: | , , |
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| 格式: | Artigo |
| 語言: | Inglês |
| 出版: |
BioMed Central
2006
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| 主題: | |
| 在線閱讀: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1513556/ https://ncbi.nlm.nih.gov/pubmed/16709256 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/1471-2350-7-46 |
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