Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Kuechler, Alma
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
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