Novel mutation and atlantoaxial dislocation in two siblings from India with Dyggve-Melchior-Clausen syndrome

被引：10

作者：

Girisha, K. M. ^{[1
]}

Cormier-Daire, Valerie ^{[2
]}

Heuertz, Solange ^{[2
]}

Phadke, Rajendra V. ^{[3
]}

Phadke, Shubha R. ^{[1
]}

机构：

[1] Sanjay Gandhi Postgrad Inst Med Sci, Dept Med Genet, Lucknow 226014, Uttar Pradesh, India

[2] Hop Necker Enfants Malad, Dept Genet, Paris, France

[3] Sanjay Gandhi Postgrad Inst Med Sci, Dept Radiodiag, Lucknow 226014, Uttar Pradesh, India

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2008年 / 51卷 / 03期

关键词：

Morquio like syndrome; mutation; India; atlantoaxial dislocation;

D O I：

10.1016/j.ejmg.2007.12.004

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Dyggve-Melchior-Clausen syndrome is a rare variety of spondyloepimetaphyseal dysplasia which often resembles Morquio syndrome. We describe two siblings from India with the condition and report a novel homozygous mutation in them (c.1172_1173insC). One of them had atlantoaxial dislocation. (C) 2007 Elsevier Masson SAS. All rights reserved.

引用

页码：251 / 256

页数：6

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