Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome

CHARGE syndrome is a life-threatening disease caused by mutations of chromodomain helicase DNA-binding protein 7 gene (CHD7). The disease is characterized by a pattern of congenital anomalies that involve multiple organs. In this study, five patients were diagnosed as CHARGE syndrome with CHD7 mutat...

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Tallennettuna:
Bibliografiset tiedot
Julkaisussa:Front Genet
Päätekijät: Qin, Zailong, Su, Jiasun, Li, Mengting, Yang, Qi, Yi, Shang, Zheng, Haiyang, Zhang, Qiang, Chen, Fei, Yi, Sheng, Lu, Weiliang, Li, Wei, Huang, Limei, Xu, Jing, Shen, Yiping, Luo, Jingsi
Aineistotyyppi: Artigo
Kieli:Inglês
Julkaistu: Frontiers Media S.A. 2020
Aiheet:
Genetics
Linkit:https://ncbi.nlm.nih.gov/pmc/articles/PMC7314916/
https://ncbi.nlm.nih.gov/pubmed/32625235
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fgene.2020.00592
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