A novel COL1A1 deletion/insertion pathogenic variant in a patient with osteogenesis imperfecta

被引：0

作者：

Yamada, Chieko ^{[1
]}

Kubota, Takuo ^{[1
]}

Ishimi, Takeshi ^{[1
]}

Takeyari, Shinji ^{[1
]}

Yamamoto, Kenichi ^{[1
,2
]}

Nakayama, Hirofumi ^{[1
]}

Ohata, Yasuhisa ^{[1
]}

Fujiwara, Makoto ^{[1
,3
]}

Kitaoka, Taichi ^{[1
]}

Ozono, Keiichi ^{[1
]}

机构：

[1] Osaka Univ, Dept Pediat, Grad Sch Med, 2-2 Yamadaoka, Suita, Osaka 5650871, Japan

[2] Osaka Univ, Dept Stat Genet, Grad Sch Med, Osaka, Japan

[3] Osaka Univ, Dept Oral & Maxillofacial Surg 1, Grad Sch Dent, Osaka, Japan

来源：

CLINICAL PEDIATRIC ENDOCRINOLOGY | 2022年 / 31卷 / 03期

关键词：

COL1A1; deletion/insertion (delins); osteogenesis imperfecta;

D O I：

10.1297/cpe.31.2022-0027

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：205 / 208

页数：4

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[6]

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