机译:Xylt2 Xylt2中的两种新突变导致脊椎奇形综合征
Department of Molecular Medicine and SurgeryKarolinska InstituteStockholm Sweden;
Department of Pediatric EndocrinologyIstanbul UniversityIstanbul Turkey;
Department of Molecular Medicine and SurgeryKarolinska InstituteStockholm Sweden;
Department of Pediatric GeneticsIstanbul UniversityIstanbul Turkey;
Department of Pediatric EndocrinologyIstanbul UniversityIstanbul Turkey;
Department of Pediatric EndocrinologyIstanbul UniversityIstanbul Turkey;
Department of Pediatric EndocrinologyIstanbul UniversityIstanbul Turkey;
Department of Ophthalmology Cerrahpasa Medicine SchoolIstanbul UniversityIstanbul Turkey;
Department of Pediatric GeneticsIstanbul UniversityIstanbul Turkey;
Department of Molecular Medicine and SurgeryKarolinska InstituteStockholm Sweden;
cataract; osteoporosis; osteochondrodysplasia; spondyloocular syndrome; XYLT2;
机译:Xylt2 Xylt2中的两种新突变导致脊椎奇形综合征
机译:纯合的Xylt2 Xylt2变体作为脊椎内综合征的原因
机译:椎管综合征:XYLT2基因的新型突变和表型谱的扩展。
机译:Pro-opid综合征中的LMNA突变
机译:与NAV1.7中突变相关的神经病疼痛综合征的结构基础
机译:XYLT2中的新型纯合移码变异在巴基斯坦近亲家庭中导致脊柱融合综合征。
机译:纯合的Xylt2变体作为脊椎床综合征的原因