A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

作者:Marshall Charlotte; Lopez Jaime; Crookes Laura; Pollitt Rebecca C; Balasubramanian Meena
来源:Gene, 2016, 595(1): 49-52.
DOI:10.1016/j.gene.2016.09.035
  • 出版日期2016-12-20