TY  - JOUR

T1  - Diagnostic conundrums in antenatal presentation of a skeletal dysplasia with description of a heterozygous C-propeptide mutation in COL1A1 associated with a severe presentation of osteogenesis imperfecta

JO  - American Journal of Medical Genetics Part A

UR  - https://eprints.whiterose.ac.uk/id/eprint/105140

UR  - http://dx.doi.org/10.1002/ajmg.a.37943

PY  - 2016/08/23

AU  - Marshall CJ

AU  - Arundel P

AU  - Mushtaq T

AU  - Offiah AC

AU  - Pollitt RC

AU  - Bishop NJ

AU  - Balasubramanian M

ED  - 

DO  - DOI: 10.1002/ajmg.a.37943

PB  - Wiley

VL  - 170

IS  - 12

SP  - 3303

EP  - 3307

Y2  - 2025/11/04

ER  -