A novel homozygous ROGD1 mutation in two siblings with Kohlschutter-Tönz syndrome: A rare entity

ŞİMŞEK KİPER P. Ö., ÜTİNE G. E., Zschocke J., BODUROĞLU O. K.

European Society of Human Genetics Conference 2017, Kopenhag, 27 - 30 May 2017, (Full Text)

• Publication Type: Conference Paper / Full Text
• City: Kopenhag
• Hacettepe University Affiliated: Yes