Article
Germline LEMD3 mutations are rare in sporadic patients with isolated melorheostosis.
Human mutation - 1 Mar 2006
Hellemans Jan, Debeer Philippe, Wright Michael, Janecke Andreas, Kjaer Klaus W, Verdonk Peter C M, Savarirayan Ravi, Basel Lina, Moss Celia, Roth Johannes, David Albert, De Paepe Anne, Coucke Paul, Mortier Geert R
Abstract excerpt
To further explore the allelic heterogeneity within the group of LEMD3-related disorders, we have screened a larger series of patients including 5 probands with osteopoikilosis or Buschke-Ollendorff syndrome (BOS), 2 families with the co-occurrence of melorheostosis and BOS, and 12 unrelated patients with isolated melorheostosis. Seven novel LEMD3 mutations were identified, all predicted to result in...
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