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

J. M. Drijvers, D. J. Lefeber, S. A. de Munnik, R. Pfundt, N. van de Leeuw, C. Marcelis, C. Thiel, C. Koerner, R. A. Wevers, E. Morava

Research output: Contribution to journalLetter

10 Scopus citations
Original languageEnglish (US)
Pages (from-to)507-509
Number of pages3
JournalClinical Genetics
Volume77
Issue number5
DOIs
StatePublished - May 1 2010

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

Cite this

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. (2010). Skeletal dysplasia with brachytelephalangy in a patient with a congenital disorder of glycosylation due to ALG6 gene mutations. Clinical Genetics, 77(5), 507-509. https://doi.org/10.1111/j.1399-0004.2009.01349.x