机译:Shox Shox远下游拷贝数变异,涉及两个姐妹的CIS-Charmatory核苷酸变体,其中包括Leri-Weill Dyschondrosteosis
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
Department of Endocrinology and MetabolismKanagawa Children's Medical CenterYokohama Japan;
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
Department of Molecular EndocrinologyNational Research Institute for Child Health and;
copy‐number variation; haploinsufficiency; Leri‐Weill dyschondrosteosis; SHOX; single nucleotide polymorphism;
机译:Shox Shox远下游拷贝数变异,涉及两个姐妹的CIS-Charmatory核苷酸变体,其中包括Leri-Weill Dyschondrosteosis
机译:SHOX上游和下游的重复被确定为Leri-Weill软骨异常或特发性身材矮小的新原因
机译:一种新颖的报告
机译:关于一个身材矮小的男孩和他的母亲有Leri-Weill软骨异常的新型SHOX错义变异的报告
机译:通过多重连接依赖探针扩增(MLPA)检测到的莱里-威尔氏软骨异常的家庭中的SHOX基因的隐性基因内删除(MLPA) MLPA)