Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations

被引：10
|
作者：
Drijvers, J. M. [1 ,2 ]
Lefeber, D. J. [3 ]
de Munnik, S. A. [4 ]
Pfundt, R. [4 ]
van de Leeuw, N. [4 ]
Marcelis, C. [4 ]
Thiel, C. [5 ]
Koerner, C. [5 ]
Wevers, R. A. [3 ]
Morava, E. [1 ,2 ]
机构：
[1] Radboud Univ Nijmegen, Med Ctr, Dept Pediat, NL-6500 HB Nijmegen, Netherlands
[2] Radboud Univ Nijmegen, Med Ctr, IGMD, NL-6500 HB Nijmegen, Netherlands
[3] Radboud Univ Nijmegen, Med Ctr, Lab Pediat & Neurol, NL-6500 HB Nijmegen, Netherlands
[4] Radboud Univ Nijmegen, Med Ctr, Dept Human Genet, NL-6500 HB Nijmegen, Netherlands
[5] Univ Heidelberg, Univ Childrens Hosp Heidelberg, Heidelberg, Germany
来源：
CLINICAL GENETICS | 2010年 / 77卷 / 05期
关键词：
OLIGOMERIC GOLGI-COMPLEX; SUBUNIT-1; SPECTRUM;
D O I：
10.1111/j.1399-0004.2009.01349.x
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：507 / 509
页数：3
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