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Familial 5q11.2 → q13.3 Segmental Duplication Cosegregating With Multiple Anomalies, Including Schizophrenia
We report on 2 relatives with a segmental duplication of 5q11.2 → 13.3. The phenotype is surprisingly limited for the degree of chromosome imbalance, the propositus presenting with schizophrenia. Using RFLP markers, we have shown that the gene for HEXB lies within the duplicated region. We suggest t...
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| Autori principali: | , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
1990
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| Soggetti: | |
| Accesso online: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3142272/ https://ncbi.nlm.nih.gov/pubmed/1967903 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.1320350103 |
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