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Article

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

Clinical genetics - 1 May 2010

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

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Topics

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Share to Bone Diseases, Developmental
Share to Glucosyltransferases
Share to Glycosylation
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Limb Deformities, Congenital

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Source

Identifiers

PMID: 20447155
DOI: 10.1111/j.1399-0004.2009.01349.x

Genes

ALG6

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations.PMID 20447155Read ↗

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