Early childhood presentation of Czech dysplasia

被引：9

作者：

Burrage, Lindsay C. ^{[1
]}

Lu, James T. ^{[2
,3
]}

Liu, David S. ^{[1
]}

Moss, Timothy J. ^{[1
]}

Gibbs, Richard ^{[1
,2
]}

Schlesinger, Alan E. ^{[4
]}

Bacino, Carlos A. ^{[1
]}

Campeau, Philippe M. ^{[1
]}

Lee, Brendan H. ^{[1
,5
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

[3] Baylor Coll Med, Dept Struct & Computat Biol & Mol Biophys, Houston, TX 77030 USA

[4] Texas Childrens Hosp, Dept Pediat Radiol, Houston, TX 77030 USA

[5] Howard Hughes Med Inst, Houston, TX 77030 USA

来源：

CLINICAL DYSMORPHOLOGY | 2013年 / 22卷 / 02期

关键词：

II GENE COL2A1; SPONDYLOEPIPHYSEAL DYSPLASIA; PRECOCIOUS OSTEOARTHRITIS; METATARSAL TYPE; TALL STATURE; MUTATION; FAMILY;

D O I：

10.1097/MCD.0b013e32835fff39

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：76 / 80

页数：5

共 13 条

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[8] Childhood-onset osteoarthritis, tall stature, and sensorineural hearing loss associated with Arg75-Cys mutation in procollagen type II gene (COL2A1)
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[10] Czech Dysplasia Occurring in a Japanese Family
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