Atypical features and de novo heterozygous mutations in two siblings with Cockayne syndrome

BACKGROUND: Cockayne syndrome (CS) is a rare autosomal recessive disorder which displays multiorgan dysfunction, especially within the nervous system including psychomotor retardation, cerebral atrophy, microcephaly, cognitive dysfunction, mental retardation, and seizures. Many genetic variations re...

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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: Wu, Shuiyan, Liu, Ying, Zhang, Qian, Meng, Xiangying, Huang, Linlin, Xu, Zhong, Zhang, Chunxu, Li, Ying, Chen, Ting, Bai, Zhenjiang
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2020
Assuntos:
Original Articles
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7216809/
https://ncbi.nlm.nih.gov/pubmed/32160415
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1204
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