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Clinical heterogeneity and intrafamilial variability of Joubert syndrome in two siblings with <i>CPLANE1</i> variants

Xiujuan Zhang, Yue Shen, Ping Li, Ruikun Cai, Chao Lu, Qian Li, Cuixia Chen, Yufei Yu, Tingting Cheng, Xian Wang,

Molecular Genetics & Genomic Medicine · 2021 · 10 citations · 18 references

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Abstract

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.

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