Journal article

An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX

Tessa Mattiske, Ching Moey, Lisenka E Vissers, Natalie Thorne, Peter Georgeson, Madhura Bakshi, Cheryl Shoubridge

Human Mutation | WILEY | Published : 2017