TY  - JOUR

T1  - Delineating the phenotypic spectrum of Bainbridge-Ropers syndrome: 12 new patients with de novo, heterozygous, loss-of-function mutations in ASXL3 and review of published literature

JO  - Journal of Medical Genetics

UR  - https://eprints.whiterose.ac.uk/id/eprint/111093

PY  - 2017/01/18

AU  - Balasubramanian M

AU  - Willoughby J

AU  - Fry AE

AU  - Weber A

AU  - Firth HV

AU  - Deshpande C

AU  - Berg JN

AU  - Chandler K

AU  - Metcalfe KA

AU  - Lam W

AU  - Pilz D et al

ED  - 

DO  - DOI: 10.1136/jmedgenet-2016-104360

PB  -  BMJ Publishing Group

VL  - 54

IS  - 8

SP  - 537

EP  - 543

Y2  - 2025/11/06

ER  -