The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation

Jeroen Van Reeuwijk, Svetlana Maugenre, Christa Van Den Elzen, Aad Verrips, Enrico Bertini, Francesco Muntoni, Luciano Merlini, Hans Scheffer, Han G. Brunner, Pascale Guicheney, Hans Van Bokhoven

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Medicine & Life Sciences