Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect

查看全文 作　　者：Lanlan [1,2]Meng;Chaofeng [1]Tu;Guangxiu [1,2]Lu;Ge [1,2]Lin;Yueqiu [1,2]Tan

机构地区：[1]Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University;[2]Reproductive and Genetic Hospital of CITIC-Xiangya

出　　处：《Science China(Life Sciences)》索引2019年第62卷第1期,共4页

基　　金：supported by the National Natural Science Foundation of China (81771645, 81471432 to Yueqiu Tan) 摘　　要：Dear Editor, Microcephalic osteodysplastic primordial dwarfism type Ⅱ (MOPD Ⅱ )is characterized by developmental retardation, wherein the affected individuals usually present with intrauterine growth retardation and preterm birth (Majewski et al.,1982;Willems et al.,2010).This leads to an average weight of <1,500g at birth and extremely restricted postnatal growth (Hall et al.,2004;Rauch,2011).Clinical manifestations ofMOPD Ⅱ include microcephaly,disproportionately short stature,mild skeletal dysplasia,unusual facial features including a prominent nose,prominent eyes in infancy and early childhood,some affected individuals exhibit slightly reduced intellectual development and cerebral vascular malformations (Willems et al.,2010;Li et al.,2015;Sam et al.,2015). 关键词：EDITOR MILD SAM

相关文献

参考文献（12）
引证文献（2）
耦合文献（0）

参考文献(12)

引证文献(2)

互联网出版许可证新出网证(渝)字10号全国400电话 - 免长途话费

Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect

参考文献(12)

引证文献(2)

用户提示