A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
Erhan Parıltay(Ege University), Behzat Özkan(Izmir University), Özdal Etlik, Erhan Özbek(Dr. Behçet Uz Çocuk Hastalıkları Hastanesi), Esra Ataman(Ege University), Fılız Hazan(Dr. Behçet Uz Çocuk Hastalıkları Hastanesi), Korcan Demir(Dokuz Eylül University)
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