Miller (Genee-Wiedemann) syndrome represents a clinically and biochemically distinct subgroup of postaxial acrofacial dysostosis associated with partial deficiency of DHODH.
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Hum Mol Genet. 2012 Sep 15;21(18):3969-83. doi: 10.1093/hmg/dds218. Epub 2012 Jun 12.
Hum Mol Genet. 2012.
PMID: 22692683