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Mucopolysaccharidosis type II in a female patient with a reciprocal X;9 translocation and skewed X chromosome inactivation |
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| Authors: | Fortunato Lonardo Paola Di Natale Susanna Lualdi Fabio Acquaviva Cristina Cuoco Francesca Scarano Marianna Maioli Luigi Michele Pavone Grazia Di Gregorio Mirella Filocamo Gioacchino Scarano |
| Affiliation: | 1. U.O.C. di Genetica Medica, A.O.R.N. “G. Rummo”, Benevento, Italy;2. Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, Napoli, Italy;3. Centro di Diagnostica Genetica e Biochimica delle Malattie Metaboliche, Istituto Giannina Gaslini, Genova, Italy;4. Laboratorio di Citogenetica, Istituto G. Gaslini, Genova, Italy |
| Abstract: | |
| Keywords: | mucopolysaccharidosis type II female Hunter syndrome iduronate 2‐sulfatase X autosome translocation X chromosome inactivation skewed |