TY  - JOUR

T1  - A novel homozygous variant in SERPINH1 associated with a severe, lethal presentation of osteogenesis imperfecta with hydranencephaly

JO  - Gene

UR  - https://eprints.whiterose.ac.uk/105483/

PY  - 2016/12/20

AU  - Marshall C

AU  - Lopez J

AU  - Crookes L

AU  - Pollitt RC

AU  - Balasubramanian M

ED  - 

DO  - DOI: 10.1016/j.gene.2016.09.035

VL  - 595

IS  - 1

SP  - 49

EP  - 52

Y2  - 2025/04/05

ER  -