INPP5E基因变异所致Joubert综合征一家系报道

doi:10.7499/j.issn.1008-8830.2018.10.016

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中国当代儿科杂志 ›› 2018, Vol. 20 ›› Issue (10) : 861-863. DOI: 10.7499/j.issn.1008-8830.2018.10.016

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INPP5E基因变异所致Joubert综合征一家系报道

陈芳¹, 孙素真¹, 唐洪侠¹, 李荣品², 王薇¹, 刘康¹, 杜雅坤¹

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Joubert syndrome caused by INPP5E mutations: report of a family

CHEN Fang¹, SUN Su-Zhen¹, TANG Hong-Xia¹, et al²

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陈芳, 孙素真, 唐洪侠, 李荣品, 王薇, 刘康, 杜雅坤. INPP5E基因变异所致Joubert综合征一家系报道[J]. 中国当代儿科杂志. 2018, 20(10): 861-863 https://doi.org/10.7499/j.issn.1008-8830.2018.10.016

CHEN Fang, SUN Su-Zhen, TANG Hong-Xia, et al. Joubert syndrome caused by INPP5E mutations: report of a family[J]. Chinese Journal of Contemporary Pediatrics. 2018, 20(10): 861-863 https://doi.org/10.7499/j.issn.1008-8830.2018.10.016

参考文献

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