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

作者：Meng, Lanlan; Tu, Chaofeng; Lu, Guangxiu; Lin, Ge; Tan, Yueqiu^*

来源：Science China Life Sciences, 2019, 62(1): 144-147.

DOI：10.1007/s11427-018-9329-3

• MOPD-II
• PERICENTRIN
• MICROARRAY
• MUTATIONS

<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

• 出版日期2019-1
• 单位中南大学