Mutations in TOP3A Cause a Bloom Syndrome-like Disorder

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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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2018
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766/
https://www.ncbi.nlm.nih.gov/pubmed/30057030
http://dx.doi.org/10.1016/j.ajhg.2018.07.001

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6080766/
https://www.ncbi.nlm.nih.gov/pubmed/30057030
http://dx.doi.org/10.1016/j.ajhg.2018.07.001

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