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[Familial florid cemento-osseous dysplasia with ANO5 mutation: a case report].

Zhonghua kou qiang yi xue za zhi = Zhonghua kouqiang yixue zazhi = Chinese journal of stomatology - 9 Feb 2026

Zhang X R, Peng K, Yu S P, Bao G, Meng Z S, Zhang J, Zhang T T

Abstract excerpt

家族性繁茂性牙骨质-骨结构不良（FFCOD）是累及颌骨两个及以上象限的非肿瘤性的纤维-骨组织病变。ANO5是FFCOD的致病基因。目前国内外关于FFCOD的遗传学研究报道较少。本文报道1例FFCOD患者及基因检测结果，并结合相关文献进行讨论。全外显子组测序发现患者携带ANO5新突变c.G1747A（p.V583I），该位点氨基酸在不同物种间高度保守。本研究拓展了ANO5基因的突变谱，为FFCOD的临床诊疗及遗传咨询提供了参考。.

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Identifiers

PMID: 41605485
DOI: 10.3760/cma.j.cn112144-20250527-00194

Genes

ANO5

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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