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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7531107/
https://www.ncbi.nlm.nih.gov/pubmed/33004012
http://dx.doi.org/10.1186/s12881-020-01130-x

Ejemplares similares

Ejemplares similares