TY  - JOUR

T1  - P4HB recurrent missense mutation causing Cole-Carpenter syndrome

JO  - Journal of Medical Genetics

UR  - https://eprints.whiterose.ac.uk/id/eprint/125577

UR  - https://doi.org/10.1136/jmedgenet-2017-104899

PY  - 2018/02/22

AU  - Balasubramanian M

AU  - Padidela R

AU  - Pollitt RC

AU  - Bishop NJ

AU  - Mughal MZ

AU  - Offiah AC

AU  - Wagner BE

AU  - McCaughey J

AU  - Stephens DJ

ED  - 

DO  - DOI: 10.1136/jmedgenet-2017-104899

PB  - BMJ Publishing Group

VL  - 55

IS  - 3

SP  - 158

EP  - 165

Y2  - 2025/11/04

ER  -