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Deletion in 1p36.33-p36.32 is associated with pancytopenia: a case report

Abstract Background 1P36 deletion syndrome is recognized as the most common terminal microdeletion syndrome in humans, characterized by early developmental delay and consequent intellectual disability, seizure disorder, and distinctive facial features. Variable deletion locations may attributed to p...

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Главные авторы: Huanhuan Yang, Jun Huang, Hao Zheng, Yunfan Zhang, Yuanzhen Zhang, Wei Liu, Jinrong Wu, Xiaobin Chen, Jinfeng Lin, Yanna Ni, Xiaojing Nie
Формат: Artigo
Язык:Inglês
Опубликовано: BMC 2023-11-01
Серии:BMC Medical Genomics
Предметы:
1p36 deletion
IRH
Haploinsufficiency
Genotype-phenotype correlation
Copy number variation
Gene sequencing
Online-ссылка:https://doi.org/10.1186/s12920-023-01723-4
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