دورية أكاديمية

SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant

التفاصيل البيبلوغرافية
العنوان: SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
المؤلفون: Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, Orsetta
المصدر: In European Journal of Medical Genetics June 2018 61(6):335-340
قاعدة البيانات: ScienceDirect
الوصف
تدمد:17697212
DOI:10.1016/j.ejmg.2018.01.011