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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Detalles Bibliográficos
Autores principales: Yue, Jingyin, Lu, Huimei, Lan, Shijie, Liu, Jingmei, Stein, Mark N., Haffty, Bruce G., Shen, Zhiyuan
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2013
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556036/
https://www.ncbi.nlm.nih.gov/pubmed/23372718
http://dx.doi.org/10.1371/journal.pone.0054389

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3556036/
https://www.ncbi.nlm.nih.gov/pubmed/23372718
http://dx.doi.org/10.1371/journal.pone.0054389

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