Hypermobile Ehlers-Danlos syndrome (hEDS) phenotype in fragile X premutation carriers: case series
脆性 X 前突变携带者的过度活动型埃勒斯-丹洛斯综合征 (hEDS) 表型：病例系列
期刊:Journal of Medical Genetics
影响因子:3.5
doi:10.1136/jmedgenet-2020-107609
Nattaporn Tassanakijpanich, Forrest J McKenzie, Yingratana A McLennan, Elisabeth Makhoul, Flora Tassone, Mittal J Jasoliya, Christopher Romney, Ignacio Cortina Petrasic, Kaye Napalinga, Caroline B Buchanan, Paul Hagerman, Randi Hagerman, Emily L Casanova
