دورية أكاديمية
SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
العنوان: | SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant |
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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 |
تدمد: | 17697212 |
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DOI: | 10.1016/j.ejmg.2018.01.011 |