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

Clinical genetics ·Vol. 77 ·No. 5 ·2010-05-00 ·Pages 507-9

Drijvers JM, Lefeber DJ, de Munnik SA, Pfundt R, van de Leeuw N, Marcelis C, Thiel C, Koerner C, Wevers RA, Morava E

Abstract

暂无摘要

MeSH Terms

Bone Diseases, Developmental/complications,diagnostic imaging,enzymology,genetics Female Glucosyltransferases/genetics Glycosylation Humans Infant Infant, Newborn Limb Deformities, Congenital/complications,diagnostic imaging,enzymology,genetics Male Membrane Proteins/genetics Mutation/genetics Pregnancy Radiography

Chemicals

Membrane Proteins ALG6 protein, human Glucosyltransferases

Authors & Affiliations

10 authors, click to expand affiliations / ORCID

Drijvers J M

Lefeber D J

de Munnik S A

Pfundt R

van de Leeuw N

Marcelis C

Thiel C

Koerner C

Wevers R A

Morava E

Article Info

Journal

Clinical genetics

Abbr.

Clin Genet

ISSN

1399-0004

DOI

10.1111/j.1399-0004.2009.01349.x

Published

2010-05-00

Pages

507-9

Language

English

Region

Denmark

NLM ID

0253664

Subset

External Links

PubMed source DOI: 10.1111/j.1399-0004.2009.01349.x View journal details

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

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