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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:BMC Med Genet
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2020
Témata:
Case Report
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky