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

Pubmed ID: 
28150386
Year: 
2017
Month: 
May
Volume: 
38
Issue: 
5
Citation: 
Mattiske T, Moey C, Vissers LE, Thorne N, Georgeson P, Bakshi M, Shoubridge C. An Emerging Female Phenotype with Loss-of-Function Mutations in the Aristaless-Related Homeodomain Transcription Factor ARX. HUMAN MUTATION 38 (5) : 548 - 555(2017) PubMed