TY - JOUR AU - Giri, Dinesh AU - Rigden, Daniel AU - Didi, Mohammed AU - Peak, Matthew AU - McNamara, Paul AU - Senniappan, Senthil PY - 2017 DA - 2017/08/04 TI - Novel compound heterozygous ASXL3 mutation causing Bainbridge-ropers like syndrome and primary IGF1 deficiency JO - International Journal of Pediatric Endocrinology SP - 8 VL - 2017 IS - 1 AB - De novo truncating and splicing mutations in the additional sex combs-like 3 (ASXL3) gene have been implicated in the development of Bainbridge-Ropers syndrome (BRPS) characterised by severe developmental delay, feeding problems, short stature and characteristic facial features. SN - 1687-9856 UR - https://doi.org/10.1186/s13633-017-0047-9 DO - 10.1186/s13633-017-0047-9 ID - Giri2017 ER -