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首页> Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists> Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review

Oculodentodigital Dysplasia with a Novel Mutation in GJA1 Diagnosed by Targeted Gene Panel Sequencing: A Case Report and Literature Review

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作者： Choi, Jaeyoung ^[1] ; Yang, Aram ^[2] ; Song, Ari ^[3] ; Lim, Minji ^[4] ; Kim, Jinsup ^[5] ; Jang, Ja-Hyun ; Park, Ki-Tae ; Cho, Sung Yoon ; Jin, Dong-Kyu

作者单位： Sungkyunkwan Univ, Samsung Med Ctr, Sch Med, Dept Pediat Dent, Seoul, South Korea ^[1] Hanyang Univ, Med Ctr, Sch Med, Dept Pediat, Seoul, South Korea ^[2] Inha Univ, Inha Univ Hosp, Coll Med, Dept Pediat, Incheon, South Korea ^[3] Sungkyunkwan Univ, Samsung Med Ctr, Sch Med, Dept Pediat, 81 Irwon Ro, Seoul 06351, South Korea ^[4] Green Cross Genome, Yongin, South Korea ^[5]

关键词 GJA1 Connexin 43 Oculodentodigital dysplasia Targeted gene panel sequencing

发布时间 2019-12-11

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Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists

Annals of Clinical and Laboratory Science

2018年48卷6期

776-781页

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Annals of Clinical and Laboratory Science: Official Journal of the Association of Clinical Scientists

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Annals of Clinical and Laboratory Science

2018年48卷6期

776-781页

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