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

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英文篇名：Novel biallelic PCNT deletion causing microcephalic osteodysplastic primordial dwarfism type II with congenital heart defect 作者：Lanlan ; Meng ; Chaofeng ; Tu ; Guangxiu ; Lu ; Ge ; Lin ; Yueqiu ; Tan 英文作者：Lanlan Meng;Chaofeng Tu;Guangxiu Lu;Ge Lin;Yueqiu Tan;Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University;Reproductive and Genetic Hospital of CITIC-Xiangya; 中文刊名：JCXG 英文刊名：中国科学:生命科学(英文版) 机构：Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University;Reproductive and Genetic Hospital of CITIC-Xiangya; 出版日期：2019-01-05 出版单位：Science China(Life Sciences) 年：2019 期：v.62 基金：supported by the National Natural Science Foundation of China (81771645, 81471432 to Yueqiu Tan) 语种：英文; 页：JCXG201901015 页数：4 CN：01 ISSN：11-5841/Q 分类号：146-149

摘要

<正>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 <1,500 g at birth and extremely restricted postnatal growth (Hall et al., 2004; Rauch, 2011). Clinical manifestations of MOPD 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
        

引文

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