WNT1 mutation with recessive osteogenesis imperfecta and profound neurological phenotype

被引：38

作者：

Faqeih, Eissa ^{[1
]}

Shaheen, Ranad ^{[2
]}

Alkuraya, Fowzan S. ^{[2
,3
]}

机构：

[1] King Fahad Med City, Dept Pediat, Riyadh, Saudi Arabia

[2] King Faisal Specialist Hosp & Res Ctr, Dept Genet, Riyadh 11211, Saudi Arabia

[3] Alfaisal Univ, Coll Med, Dept Anat & Cell Biol, Riyadh, Saudi Arabia

来源：

JOURNAL OF MEDICAL GENETICS | 2013年 / 50卷 / 07期

关键词：

D O I：

10.1136/jmedgenet-2013-101750

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：491 / 492

页数：2

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