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Human Genetics|January 13, 2006
Epimutation of the TNDM locus and the Beckwith-Wiedemann syndrome centromeric locus in individuals with transient neonatal diabetes mellitusD J G Mackay, J M D Hahnemann, S E Boonen, et al.Human Genetics|July 4, 2006
A maternal hypomethylation syndrome presenting as transient neonatal diabetes mellitusD J G Mackay, S E Boonen, J Clayton-Smith, et al.The British Journal of Ophthalmology|May 25, 2007
SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletionsP Bakrania, D O Robinson, D J Bunyan, et al.Pageof 6