Home LiteratureArticle Details
PMID: 23900269 Published · ppublish English Letter Comment

Congenital disorders of glycosylation: other causes of ichthyosis.

European journal of human genetics : EJHG ·Vol. 22 ·No. 4 ·2014-04-00 ·Pages 444

Jaeken J, Rymen D, Matthijs G

Abstract

暂无摘要

MeSH Terms
Cornea/cytology Humans Ichthyosis/classification,diagnosis Skin/physiopathology
Authors & Affiliations
3 authors, click to expand affiliations / ORCID
Jaeken Jaak
Center for Metabolic Disease, KULeuven, Leuven, Belgium.
Rymen Daisy
1] Center for Metabolic Disease, KULeuven, Leuven, Belgium [2] Center for Human Genetics, KULeuven, Leuven, Belgium.
Matthijs Gert
Center for Human Genetics, KULeuven, Leuven, Belgium.
References (8)
8 references, click to expand
  1. Autosomal recessive dilated cardiomyopathy due to DOLK mutations results from abnormal dystroglycan O-mannosylation.
    PLoS Genet. 2011 Dec;7(12):e1002427 PMID: 22242004
  2. Mutations in the glycosylphosphatidylinositol gene PIGL cause CHIME syndrome.
    Am J Hum Genet. 2012 Apr 6;90(4):685-8 PMID: 22444671
  3. Inherited ichthyoses/generalized Mendelian disorders of cornification.
    Eur J Hum Genet. 2013 Feb;21(2):123-33 PMID: 22739337
  4. SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.
    Cell. 2010 Jul 23;142(2):203-17 PMID: 20637498
  5. A defect in dolichol phosphate biosynthesis causes a new inherited disorder with death in early infancy.
    Am J Hum Genet. 2007 Mar;80(3):433-40 PMID: 17273964
  6. MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If.
    J Clin Invest. 2001 Dec;108(11):1687-95 PMID: 11733564
  7. A mutation in the human MPDU1 gene causes congenital disorder of glycosylation type If (CDG-If).
    J Clin Invest. 2001 Dec;108(11):1613-9 PMID: 11733556
  8. A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.
    Am J Med Genet A. 2008 Apr 1;146A(7):813-9 PMID: 18271001
Article Info
Journal
European journal of human genetics : EJHG
Abbr.
Eur J Hum Genet
ISSN
1476-5438
DOI
10.1038/ejhg.2013.168
Published
2014-04-00
Epub
2013-00-31
Pages
444
Language
English
Region
England
NLM ID
9302235
PMCID
PMC3953898
Subset
IM
Corrections
CommentOn
PMID: 22739337
External Links
PubMed source DOI: 10.1038/ejhg.2013.168 PMC Full Text View journal details
Analysis Services
Analysis Services

Contact

No. 2 Wenbo Road, Zhangqiu District, Jinan, Shandong

Qilu Normal University · Genelibs Bioinformatics Lab

750 Shunhua Rd, Jinan

2F, Bldg F, University Science Park

Tel: 0531-88819269

WeChat Official Account

Follow our WeChat subscription account for real-time updates and the latest in medical and biological research.


Business Email

E-mail: product@genelibs.com

Copyright © 2026.Genelibs Jinan Honghui Biotechnology Co., Ltd. 鲁ICP备20007159号-2