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Duplication of 16q22-->qter confirmed by fluorescence in situ hybridisation and molecular analysis.
We report a female infant with congenital dislocation of the knee and dysmorphic features including a prominent forehead, midface hypoplasia, and micrognathia. Fluorescence in situ hybridisation and PCR amplification of microsatellite repeats were used to show that she had a de novo unbalanced trans...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1994
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC1016665/ https://ncbi.nlm.nih.gov/pubmed/7853376 |
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