p.Ser348Cys mutation in FGFR3 gene leads to “Mild ACH /Severe HCH” phenotype

Autor: Bengur, Fuat Baris, Ekmekci, Cumhur Gokhan, Karaarslan, Ercan, Gunoz, Hulya, Alanay, Yasemin
Zdroj: In European Journal of Medical Genetics February 2020 63(2)
Databáze: ScienceDirect