Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

BACKGROUND: Joubert syndrome (OMIM 213300) is an autosomal recessive disorder with gene heterogeneity. Causal genes and their variants have been identified by sequencing or other technologies for Joubert syndrome subtypes. CASE PRESENTATION: A two-year-old boy was diagnosed with Joubert syndrome by...

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Detalhes bibliográficos
Publicado no:BMC Med Genet
Main Authors: Shen, Yue, Wang, Hao, Liu, Zhimin, Luo, Minna, Ma, Siyu, Lu, Chao, Cao, Zongfu, Yu, Yufei, Cai, Ruikun, Chen, Cuixia, Li, Qian, Gao, Huafang, Peng, Yun, Xu, Baoping, Ma, Xu
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2020
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC7531107/
https://ncbi.nlm.nih.gov/pubmed/33004012
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-020-01130-x
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