Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with CPLANE1 variants.

Xiujuan ZhangYue ShenPing LiRuikun CaiChao LuQian LiCuixia ChenYufei YuTingting ChengXian WangMinna Luo Muqing CaoZongfu CaoXu Ma

Published in: Molecular genetics & genomic medicine (2021)

This study reports that two novel CPLANE1 variants are associated with the occurrence of JBTS and OFD VI. These results help elucidate the intrafamilial phenotypic variability associated with CPLANE1 variants.

Keyphrases

copy number
single cell
emergency department
intellectual disability
gene expression
adverse drug