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

التفاصيل البيبلوغرافية
العنوان: Novel ANKRD11 gene mutation in an individual with a mild phenotype of KBG syndrome associated to a GEFS+ phenotypic spectrum: a case report
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
الوصف
تدمد:14712350
DOI:10.1186/s12881-019-0745-7