Isolated Case of Dentinogenesis Imperfecta with a mutation in COL1A1 gene

被引：0

作者：

Villasmil, Maria Parra ^{[1
]}

Curtis, Vanessa ^{[1
]}

机构：

[1] Univ Iowa Hosp & Clin, Iowa City, IA 52242 USA

来源：

HORMONE RESEARCH IN PAEDIATRICS | 2022年 / 95卷 / SUPPL 1期

关键词：

D O I：

暂无

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

5031

引用

页码：104 / 105

页数：2

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[21] A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family [J].

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Zhao, Ding ;

Guo, Zhenxin ;

Xue, Jinjie ;

Xie, Zhiguo ;

Xiong, Zhimin ;

Xu, Xiaojuan ;

Su, Wei ;

Wang, Bing ;

Xia, Kun ;

Hu, Zhengmao .

GENE, 2012, 502 (02) :168-171

[22] A DOMINANT MUTATION IN THE COL1A1 GENE THAT SUBSTITUTES GLYCINE FOR VALINE CAUSES RECURRENT LETHAL OSTEOGENESIS IMPERFECTA [J].

BONAVENTURE, J ;

COHENSOLAL, L ;

LASSELIN, C ;

MAROTEAUX, P .

HUMAN GENETICS, 1992, 89 (06) :640-646

[23] Prenatal cortical hyperostosis with COL1A1 gene mutation [J].

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Saada, Julien ;

Sonigo-Cohen, Pascale ;

Razavi, Ferechte ;

Munnich, Arnold ;

Le Merrer, Martine .

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[24] Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation [J].

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Nishimura, Gen ;

Akaishi, Rina ;

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Morikawa, Mamoru ;

Yamada, Takashi ;

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Sawai, Hideaki ;

Ikegawa, Shiro ;

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[26] A novel COL1A1 mutation in a family with osteogenesis imperfecta associated with phenotypic variabilities [J].

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[27] A novel COL1A1 nonsense mutation causing osteogenesis imperfecta in a Chinese family [J].

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[28] Osteogenesis Imperfecta Type I Caused by a Novel Mutation in the Start Codon of the COL1A1 Gene in a Korean Family [J].

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[29] Structural Variants in COL1A1 and COL1A2 in Osteogenesis Imperfecta [J].

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Lundin, Johanna ;

Eisfeldt, Jesper ;

Lindstrand, Anna ;

Nordgren, Ann ;

Astrom, Eva ;

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[30] Subarachnoid Hemorrhage Secondary to Aneurysm Rupture in a Patient with Osteogenesis Imperfecta with COL1A1 Mutation [J].

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