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

被引：13

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 [遗传学];

摘要：

引用

页码：507 / 509

页数：3

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