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11q13.3q13.4 deletion plus 9q21.13q21.33 duplication in an affected girl arising from a familial four‐way balanced chromosomal translocation
BACKGROUND: We describe a 13‐year‐old girl with a 11q13.3q13.4 deletion encompassing the SHANK2 gene and a 9q21.13q21.33 duplication. She presented with pre‐ and postnatal growth retardation, global developmental delay, severe language delay, cardiac abnormalities, and dysmorphisms. Her maternal fam...
Autores principales: | Zhang, Qinxin, Wang, Yan, Zhou, Jing, Zhou, Ran, Liu, An, Meng, Lulu, Ji, Xiuqing, Hu, Ping, Xu, Zhengfeng |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
John Wiley and Sons Inc.
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10568374/ https://www.ncbi.nlm.nih.gov/pubmed/37475652 http://dx.doi.org/10.1002/mgg3.2248 |
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