TY  - JOUR

T1  - Cerebrofaciothoracic dysplasia: four new patients with a recurrent TMCO1 pathogenic variant.

JO  - American Journal of Medical Genetics Part A

UR  - https://eprints.whiterose.ac.uk/id/eprint/140464

PY  - 2019/01/25

AU  - Yates TM

AU  - Ng O-H

AU  - Offiah AC

AU  - Willoughby J

AU  - Berg JN

AU  - Study DDD

AU  - Johnson DS

ED  - 

DO  - DOI: 10.1002/ajmg.a.60678

PB  - Wiley

VL  - 179

IS  - 1

SP  - 43

EP  - 49

Y2  - 2025/11/11

ER  -