دورية أكاديمية
Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
العنوان: | Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report |
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المؤلفون: | Alves, Rita MariaAff1, Aff2, Uva, PaoloAff3, Veiga, Marielza F.Aff1, Aff4, Oppo, ManuelaAff5, Zschaber, Fabiana C. R.Aff2, Porcu, GiampieroAff2, Porto, Henrique P.Aff2, Persico, IvanaAff6, Onano, StefanoAff5, Aff6, Cuccuru, GianmauroAff3, Atzeni, RossanoAff3, Vieira, Lauro C. N.Aff7, Pires, Marcos V. A.Aff2, Aff8, Cucca, FrancescoAff5, Aff6, Toralles, Maria Betânia P.Aff1, Angius, AndreaAff5, Aff6, Crisponi, LauraAff5, Aff6 |
المصدر: | BMC Medical Genetics. 20(1) |
قاعدة البيانات: | Springer Nature Journals |
تدمد: | 14712350 |
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DOI: | 10.1186/s12881-019-0745-7 |