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Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.

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Title: Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.
Authors: Lauretti G; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Pietrobono R; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy., Niccolini B; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy., Modafferi C; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Accadia M; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, 73039, Italy., Piepoli A; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Italy., Orteschi D; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Pomponi MG; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy., Chiurazzi P; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy., Genuardi M; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy., Neri G; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy., Tabolacci E; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy. Electronic address: elisabetta.tabolacci@unicatt.it.
Source: European journal of medical genetics [Eur J Med Genet] 2026 Jul 15; Vol. 83, pp. 105093. Date of Electronic Publication: 2026 Jul 15.
Publication Type: Case Reports; Journal Article
Journal Info: Publisher: Elsevier Country of Publication: Netherlands NLM ID: 101247089 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1878-0849 (Electronic) Linking ISSN: 17697212 NLM ISO Abbreviation: Eur J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Two new cases of fragile X syndrome without CGG triplet expansion. Clinical-molecular characterization and review of the literature.
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  Data: <searchLink fieldCode="AU" term="%22Lauretti+G%22">Lauretti G</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Pietrobono+R%22">Pietrobono R</searchLink>; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Niccolini+B%22">Niccolini B</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Modafferi+C%22">Modafferi C</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Accadia+M%22">Accadia M</searchLink>; Medical Genetics Service, Hospital Cardinale G. Panico, Tricase, 73039, Italy.<br /><searchLink fieldCode="AU" term="%22Piepoli+A%22">Piepoli A</searchLink>; Division of Medical Genetics, Fondazione IRCCS Casa Sollievo della Sofferenza, San Giovanni Rotondo, 71013, Italy.<br /><searchLink fieldCode="AU" term="%22Orteschi+D%22">Orteschi D</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Pomponi+MG%22">Pomponi MG</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Chiurazzi+P%22">Chiurazzi P</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Genuardi+M%22">Genuardi M</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Neri+G%22">Neri G</searchLink>; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy.<br /><searchLink fieldCode="AU" term="%22Tabolacci+E%22">Tabolacci E</searchLink>; UOC Genetica Medica, Fondazione Policlinico Universitario A. Gemelli IRCCS, Rome, 00168, Italy; Dept. of Life Sciences and Public Health, Section of Genomic Medicine, Catholic University of Sacred Heart, Rome, 00168, Italy. Electronic address: elisabetta.tabolacci@unicatt.it.
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  Data: <searchLink fieldCode="JN" term="%22101247089%22">European journal of medical genetics</searchLink> [Eur J Med Genet] 2026 Jul 15; Vol. 83, pp. 105093. <i>Date of Electronic Publication: </i>2026 Jul 15.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22Elsevier%22">Elsevier </searchLink><i>Country of Publication: </i>Netherlands <i>NLM ID: </i>101247089 <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1878-0849 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217697212%22">17697212 </searchLink><i>NLM ISO Abbreviation: </i>Eur J Med Genet <i>Subsets: </i>MEDLINE
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