Recurrence of osteogenesis imperfecta due to maternal mosaicism of a novel COL1A1 mutation

被引：1

作者：

Yamada, Takahiro ^{[1
]}

Takagi, Masaki ^{[2
]}

Nishimura, Gen ^{[3
]}

Akaishi, Rina

Furuta, Itsuko

Morikawa, Mamoru

Yamada, Takashi

Cho, Kazutoshi

Sawai, Hideaki ^{[4
]}

Ikegawa, Shiro ^{[5
]}

Hasegawa, Tomonobu ^{[2
]}

Minakami, Hisanori

机构：

[1] Hokkaido Univ, Dept Obstet & Gynecol, Grad Sch Med, Kita Ku, Sapporo, Hokkaido 0608638, Japan

[2] Keio Univ, Sch Med, Dept Pediat, Tokyo, Japan

[3] Tokyo Metropolitan Childrens Med Ctr, Dept Radiol, Tokyo, Japan

[4] Hyogo Coll Med, Dept Obstet & Gynecol, Nishinomiya, Hyogo 6638501, Japan

[5] RIKEN, Lab Bone & Joint Dis, Ctr Genom Med, Tokyo, Japan

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2012年 / 158A卷 / 11期

关键词：

I COLLAGEN; DOMINANT MUTATION; GENE COLIAI; LETHAL; DEFICIENCY; BONE;

D O I：

10.1002/ajmg.a.35602

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：2969 / 2971

页数：3

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