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A locus for familial skewed X chromosome inactivation maps to chromosome Xq25 in a family with a female manifesting Lowe syndrome |
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| Authors: | Milena Cau Maria Addis Rita Congiu Cristiana Meloni Antonio Cao Simona Santaniello Mario Loi Francesco Emma Orsetta Zuffardi Roberto Ciccone Gabriella Sole Maria Antonietta Melis |
| Affiliation: | (1) Dipartimento di Scienze Biomediche e Biotecnologie, Università di Cagliari, via Jenner s/n, 09134 Cagliari, Italy;(2) Istituto di Neurogenetica e Neurofarmacologia, CNR, Selargius (CA), Italy;(3) Servizio di Neuropsichiatria. Azienda Ospedaliera G. Brotzu, Cagliari, Italy;(4) Department of Nephrology and dialysis, Bambino Gesù, Children’s Research Hospital, Rome, Italy;(5) Genetica Medica Università di Pavia, Pavia, Italy;(6) IRCSS Policlinico San Matteo, Pavia, Italy |
| Abstract: | |
| Keywords: | Lowe syndrome Skewed X inactivation X chromosome inactivation Family study |
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