Bi-allelic Loss-of-Function Mutations in the NPR-C Receptor Result in Enhanced Growth and Connective Tissue Abnormalities
NPR-C受体双等位基因功能丧失突变导致生长增强和结缔组织异常
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2018.06.007
Boudin, Eveline; de Jong, Tjeerd R; Prickett, Tim C R; Lapauw, Bruno; Toye, Kaatje; Van Hoof, Viviane; Luyckx, Ilse; Verstraeten, Aline; Heymans, Hugo S A; Dulfer, Eelco; Van Laer, Lut; Berry, Ian R; Dobbie, Angus; Blair, Ed; Loeys, Bart; Espiner, Eric A; Wit, Jan M; Van Hul, Wim; Houpt, Peter; Mortier, Geert R
