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Autor:
Nathalie Dagoneau, Pedro Cabral, M. Manuel Vilhena, Madalena Tuna, Valerie Cormier Daire, I.M. Gaspar, Raoul C.M. Hennekam, Tiago Saldanha, Cristina Costa
Publikováno v:
American journal of medical genetics. Part A, 146A(13), 1748-1753. Wiley-Liss Inc.
Stuve-Wiedemann syndrome (SWS) is an autosomal recessively inherited disorder that is usually associated with high mortality in the neonatal period. Eleven cases have been published with prolonged survival, the oldest being 16 years. This phenotype i