A New SLC10A7 Homozygous Missense Mutation Responsible for a Milder Phenotype of Skeletal Dysplasia With Amelogenesis Imperfecta
一种新的 SLC10A7 纯合错义突变导致较轻的牙釉质形成不全性骨骼发育不良表型
期刊:Frontiers in Genetics
影响因子:2.8
doi:10.3389/fgene.2019.00504
Virginie Laugel-Haushalter, Séverine Bär, Elise Schaefer, Corinne Stoetzel, Véronique Geoffroy, Yves Alembik, Naji Kharouf, Mathilde Huckert, Pauline Hamm, Joseph Hemmerlé, Marie-Cécile Manière, Sylvie Friant, Hélène Dollfus, Agnès Bloch-Zupan