Miller (Gene-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH

Joe Rainger, Hemant Bengani, Leigh Campbell, Eve Anderson, Kishan Sokhi, Wayne Lam, Angelika Riess, Morad Ansari, Sarah Smithson, Melissa Lees, Catherine Mercer, Kathryn McKenzie, Tobias Lengfeld, Blanca Gener Querol, Peter Branney, Stewart McKay, Harris Morrison, Bethan Medina, Morag Robertson, Juergen KohlhaseColin Gordon, Jean Kirk, Dagmar Wieczorek, David R. FitzPatrick*

*Corresponding author for this work

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Biochemistry, Genetics and Molecular Biology