Homozygous inactivating mutations in the NKX3-2 gene result in spondylo-megaepiphyseal-metaphyseal dysplasia
NKX3-2基因的纯合失活突变会导致脊椎骨骺-干骺端发育不良
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2009.11.005
Hellemans, Jan; Simon, Marleen; Dheedene, Annelies; Alanay, Yasemin; Mihci, Ercan; Rifai, Laila; Sefiani, Abdelaziz; van Bever, Yolande; Meradji, Morteza; Superti-Furga, Andrea; Mortier, Geert