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

Sci China Life Sci. 2019 Jan;62(1):144-147. doi: 10.1007/s11427-018-9329-3. Epub 2018 Jun 28.

Lanlan Meng^{1

2}, Chaofeng Tu¹, Guangxiu Lu^{1

2}, Ge Lin^{1

2}, Yueqiu Tan^{3

4}

¹ Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, China.
² Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, China.
³ Institute of Reproduction and Stem Cell Engineering, School of Basic Medicine, Central South University, Changsha, 410078, China. tanyueqiu@csu.edu.cn.
⁴ Reproductive and Genetic Hospital of CITIC-Xiangya, Changsha, 410078, China. tanyueqiu@csu.edu.cn.

No abstract available

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