Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

Bloom syndrome, caused by biallelic mutations in BLM, is characterized by prenatal-onset growth deficiency, short stature, an erythematous photosensitive malar rash, and increased cancer predisposition. Diagnostically, a hallmark feature is the presence of increased sister chromatid exchanges (SCEs)...

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Detalhes bibliográficos
Publicado no:Am J Hum Genet
Main Authors: Martin, Carol-Anne, Sarlós, Kata, Logan, Clare V., Thakur, Roshan Singh, Parry, David A., Bizard, Anna H., Leitch, Andrea, Cleal, Louise, Ali, Nadia Shaukat, Al-Owain, Mohammed A., Allen, William, Altmüller, Janine, Aza-Carmona, Miriam, Barakat, Bushra A.Y., Barraza-García, Jimena, Begtrup, Amber, Bogliolo, Massimo, Cho, Megan T., Cruz-Rojo, Jaime, Dhahrabi, Hassan Ali Mundi, Elcioglu, Nursel H., Gorman, Gráinne S., Jobling, Rebekah, Kesterton, Ian, Kishita, Yoshihito, Kohda, Masakazu, Le Quesne Stabej, Polona, Malallah, Asam Jassim, Nürnberg, Peter, Ohtake, Akira, Okazaki, Yasushi, Pujol, Roser, Ramirez, Maria José, Revah-Politi, Anya, Shimura, Masaru, Stevens, Paul, Taylor, Robert W., Turner, Lesley, Williams, Hywel, Wilson, Carolyn, Yigit, Gökhan, Zahavich, Laura, Alkuraya, Fowzan S., Surralles, Jordi, Iglesais, Alejandro, Murayama, Kei, Wollnik, Bernd, Dattani, Mehul, Heath, Karen E., Hickson, Ian D., Jackson, Andrew P.
Formato: Artigo
Idioma:Inglês
Publicado em: Elsevier 2018
Assuntos:
Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6080766/
https://ncbi.nlm.nih.gov/pubmed/30057030
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2018.07.001
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