Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition. [electronic resource]
- European journal of human genetics : EJHG 02 2017
- 183-191 p. digital
Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
1476-5438
10.1038/ejhg.2016.165 doi
Adolescent Child, Preschool Developmental Disabilities--diagnosis Failure to Thrive--diagnosis Female Humans Infant Male Mutation Phenotype Syndrome Transcription Factors--genetics