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A de novo 1.6Mb microdeletion at 19q13.2 in a boy with Diamond-Blackfan anemia, global developmental delay and multiple congenital anomalies
BACKGROUD: Microdeletions at 19q13.2 are very rare. Only two cases have been previously described. Here we report a 2-year-2-month old boy with Diamond-Blackfan anemia, global developmental delay, cognitive impairments, distinctive facial features, behavior problems, skeletal and genital dysplasia....
Autores principales: | Yuan, Haiming, Meng, Zhe, Liu, Liping, Deng, Xiaoyan, Hu, Xizi, Liang, Liyang |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
BioMed Central
2016
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4970238/ https://www.ncbi.nlm.nih.gov/pubmed/27486481 http://dx.doi.org/10.1186/s13039-016-0268-2 |
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