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

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

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: European Journal of Medical Genetics - Volume 61, Issue 6, June 2018, Pages 335-340

Edoardo Errichiello, Cristina Gorgone, Loretta Giuliano, Barbara Iadarola, Emanuela Cosentino, Marzia Rossato, Nehir Edibe Kurtas, Massimo Delledonne, Teresa Mattina, Orsetta Zuffardi,