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SOX2: Not always eye malformations. Severe genital but no major ocular anomalies in a female patient with the recurrent c.70del20 variant
Errichiello, Edoardo, Gorgone, Cristina, Giuliano, Loretta, Iadarola, Barbara, Cosentino, Emanuela, Rossato, Marzia, Kurtas, Nehir Edibe, Delledonne, Massimo, Mattina, Teresa, Zuffardi, OrsettaVolume:
61
Langue:
english
Journal:
European Journal of Medical Genetics
DOI:
10.1016/j.ejmg.2018.01.011
Date:
June, 2018
Fichier:
PDF, 693 KB
english, 2018