A female patient with retinoblastoma and severe intellectual disability carrying an X;13 balanced translocation without rearrangement in the RB1 gene: a case report

BACKGROUND: Female carriers of a balanced X; autosome translocation generally undergo selective inactivation of the normal X chromosome. This is because inactivation of critical genes within the autosomal region of the derivative translocation chromosome would compromise cellular function. We here r...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Tsutsumi, Makiko, Hattori, Hiroyoshi, Akita, Nobuhiro, Maeda, Naoko, Kubota, Toshinobu, Horibe, Keizo, Fujita, Naoko, Kawai, Miki, Shinkai, Yasuko, Kato, Maki, Kato, Takema, Kawamura, Rie, Suzuki, Fumihiko, Kurahashi, Hiroki
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2019
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6896736/
https://ncbi.nlm.nih.gov/pubmed/31806026
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-019-0640-2
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