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Identification of the DNA Repair Defects in a Case of Dubowitz Syndrome
Dubowitz Syndrome is an autosomal recessive disorder with a unique set of clinical features including microcephaly and susceptibility to tumor formation. Although more than 140 cases of Dubowitz syndrome have been reported since 1965, the genetic defects of this disease has not been identified. In t...
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| Main Authors: | , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Public Library of Science
2013
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3556036/ https://ncbi.nlm.nih.gov/pubmed/23372718 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1371/journal.pone.0054389 |
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