POMGnT1 mutation and phenotypic spectrum in muscle-eye-brain disease.

C. Diesen, A. Saarinen, H. Pihko, C. Rosenlew, B. Cormand, W. B. Dobyns, J. Dieguez, L. Valanne, T. Joensuu, A. E. Lehesjoki

Research output: Contribution to journalLetterpeer-review

42 Scopus citations
Original languageEnglish (US)
Pages (from-to)e115
JournalJournal of medical genetics
Volume41
Issue number10
DOIs
StatePublished - Oct 2004
Externally publishedYes

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