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First report of X-linked hypohidrotic ectodermal dysplasia with a hemizygous c.1142G > C in the EDA gene: variant of uncertain significance or new pathogenic variant? |
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| Mario Tumminello, Antonella Gangemi, Federico Matina, Melania Guardino, Bianca Lea Giuffrè, Giovanni Corsello |
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| Nils Niekamp, Johannes Kleinheinz, Daniel R. Reissmann, Lauren Bohner, Marcel Hanisch |
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| Delgado PecellÃn, I. and Castillo Reguera, Y. and Delgado PecellÃn, C. and Bueno Delgado, M.A. and González Valencia, J.P. and Obando Santaella, I. and Neth, O. |
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