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

Xiujuan Zhang1,2, Yue Shen3, Ping Li4

  • 1Department of Physiology and Pathophysiology, School of Basic Medicine Sciences, Key Laboratory of Molecular Cardiovascular Science, Ministry of Education, Peking University, Beijing, China.

Molecular Genetics & Genomic Medicine
|April 6, 2021
PubMed
Abstract

Keywords:
CPLANE1Joubert syndromeOFD VIintrafamilial heterogeneity

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