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Prenatal diagnosis of ATR-X syndrome in a fetus with a new G>T splicing mutation in the XNP/ATR-X gene |
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| Authors: | Marco Fichera Margherita Silengo Angela Spalletta Mariangela Lo Giudice Corrado Romano Angela Ragusa |
| Affiliation: | 1. Laboratorio di Patologia Genetica, IRCCS Oasi Maria SS, Troina (EN), Italy;2. Dipartimento di Clinica Pediatria Universitaria, Ospedale Infantile Regina Margherita, Torino, Italy;3. Dipartimento di Pediatria, IRCCS Oasi Maria SS, Troina (EN), Italy |
| Abstract: | |
| Keywords: | ATR-X syndrome XNP/ATR-X gene disease-associated haplotype prenatal diagnosis |