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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...
Autores principales: | , , , , , , , , , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Frontiers Media S.A.
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7314916/ https://www.ncbi.nlm.nih.gov/pubmed/32625235 http://dx.doi.org/10.3389/fgene.2020.00592 |