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/id/eprint/105483

UR  - http://dx.doi.org/10.1016/j.gene.2016.09.035

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

PB  - Elsevier

VL  - 595

IS  - 1

SP  - 49

EP  - 52

Y2  - 2025/11/06

ER  -