Warsaw Breakage Syndrome: Further Clinical and Genetic Delineation

Warsaw breakage syndrome (WBS) is a recently recognized DDX11-related rare cohesinopathy, characterized by severe prenatal and postnatal growth restriction, microcephaly, developmental delay, cochlear anomalies and sensorineural hearing loss. Only seven cases have been reported in the English litera...

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Опубликовано в: :Am J Med Genet A
Главные авторы: Alkhunaizi, Ebba, Shaheen, Ranad, Bharti, Sanjay Kumar, Joseph-George, Ann M., Chong, Karen, Abdel-Salam, Ghada M H, Alowain, Mohammed, Blaser, Susan I, Papsin, Blake C, Butt, Mohammed, Hashem, Mais, Martin, Nicole, Godoy, Ruth, Brosh, Robert M., Alkuraya, Fowzan S, Chitayat, David
Формат: Artigo
Язык:Inglês
Опубликовано: 2018
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC6289708/
https://ncbi.nlm.nih.gov/pubmed/30216658
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/ajmg.a.40482
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