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

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

Database: Elsevier - ScienceDirect (ساینس دایرکت)
Journal: Gene - Volume 595, Issue 1, 20 December 2016, Pages 49-52

Charlotte Marshall, Jaime Lopez, Laura Crookes, Rebecca C Pollitt, Meena Balasubramanian,