Mutations in FKBP14 cause a variant of Ehlers-Danlos syndrome with progressive kyphoscoliosis, myopathy, and hearing loss
FKBP14 基因突变会导致 Ehlers-Danlos 综合征,并伴有进行性脊柱后侧凸、肌病和听力丧失
期刊:American Journal of Human Genetics
影响因子:8.1
doi:10.1016/j.ajhg.2011.12.004
Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber, Yaqun Zou, Ying Hu, Norma Beatriz Romero, Robert Yves Carlier, Albert Amberger, Andrea Deutschmann,