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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...
| Autores principales: | , , |
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| Formato: | Texto |
| Lenguaje: | English |
| Publicado: |
BioMed Central
2006
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1513556/ https://www.ncbi.nlm.nih.gov/pubmed/16709256 http://dx.doi.org/10.1186/1471-2350-7-46 |