Buschke-ollendorff syndrome with striking phenotypic variation resulting from a novel c.2203C>T nonsense mutation in LEMD3

1. Yuste-Chaves, M.
2. Cañueto, J.
3. Santos-Briz, A.
4. Ciria, S.
5. González-Sarmiento, R.
6. Unamuno, P.