论文信息 - Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings - 字舞流文

Homozygous missense VPS16 variant is associated with a novel disease, resembling mucopolysaccharidosis‐plus syndrome in two siblings

I. Lay | A. Dursun | C. Aytekin | C. Koşukcu | Gülseren Sahin | Y. Taşçı Yıldız | D. Yüksel | M. Akçaboy | Yılmaz Yıldız | Fatma Zehra Öztek Çelebi | Damla Aygün | R. Özgül | Gülseren Şahin