Identification of two novel pathogenic variants of PIBF1 by whole exome sequencing in a 2-year-old boy with Joubert syndrome

• Главные авторы: Yue Shen (Автор), Hao Wang (Автор), Zhimin Liu (Автор), Minna Luo (Автор), Siyu Ma (Автор), Chao Lu (Автор), Zongfu Cao (Автор), Yufei Yu (Автор), Ruikun Cai (Автор), Cuixia Chen (Автор), Qian Li (Автор), Huafang Gao (Автор), Yun Peng (Автор), Baoping Xu (Автор), Xu Ma (Автор)
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• Опубликовано: BMC, 2020-10-01T00:00:00Z.
• Предметы: article
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Abstract 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 syndr...