Of mice, men, and King Tut: autosomal recessive Klippel-Feil syndrome is caused by mutations in MEOX1

被引：5

作者：

Rosti, R. O. ^{[1
]}

机构：

[1] Univ Calif San Diego, Dept Neurosci & Pediat, Neurogenet Lab, Inst Genom Med,Howard Hughes Med Inst, San Diego, CA 92103 USA

来源：

CLINICAL GENETICS | 2013年 / 84卷 / 01期

关键词：

D O I：

10.1111/cge.12159

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Mutations in MEOX1, encoding mesenchyme homeobox 1, cause Klippel-Feil anomaly. Jawahir et al. (2013) The American Journal of Human Genetics 92: 157-161

引用

页码：19 / 19

页数：1

共 3 条

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[3] Lack of the mesodermal homeodomain protein MEOX1 disrupts sclerotome polarity and leads to a remodeling of the cranio-cervical joints of the axial skeleton [J].

Skuntz, Susan ;

Mankoo, Baljinder ;

Nguyen, Minh-Thanh T. ;

Hustert, Elisabeth ;

Nakayama, Atsuo ;

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Wright, Christopher V. E. ;

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Arnheiter, Heinz .

DEVELOPMENTAL BIOLOGY, 2009, 332 (02) :383-395

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