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  - Am J Med Genet A

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

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

Y2  - 2024/12/22

ER  -