Corpus callosum agenesis, multiple cysts, skin defects, and subtle ocular abnormalities with a de novo mutation [45,XX,der(5), t(5;;14) (pter;q11.2)].
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R. Zannolli | R. Perotti | G. Morgese | M. Biagioli | M. Guarna | M. Pierluigi | L. Pucci | R. Mostardini | A. D'ambrosio | T. Hadjistilianou | G. Zerega | L. Sorrentino | B. Franco