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 journalLetterpeer-review

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

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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