A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype

D. Beltrán-Valero De Bernabé, H. Van Bokhoven, E. Van Beusekom, W. Van Den Akker, S. Kant, W. B. Dobyns, B. Cormand, S. Currier, B. Hamel, B. Talim, H. Topaloglu, H. G. Brunner

Research output: Contribution to journalArticlepeer-review

129 Scopus citations
Original languageEnglish (US)
Pages (from-to)845-848
Number of pages4
JournalJournal of medical genetics
Volume40
Issue number11
DOIs
StatePublished - Nov 2003
Externally publishedYes

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