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
Description
ISSN:1878-0849
DOI:10.1016/j.ejmg.2026.105093