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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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Detalhes bibliográficos
Main Authors: McGillivray, Barbara C., Bassett, Anne S., Langlois, Sylvie, Pantzar, Tapio, Wood, Stephen
Formato: Artigo
Idioma:Inglês
Publicado em: 1990
Assuntos:
Acesso em linha: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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