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

Extra phenotypic features in a girl with Miller syndrome

(2011) Ali Al Kaissi et al.   CLINICAL DYSMORPHOLOGY

Ribosomopathies: human disorders of ribosome dysfunction

(2010) A. Narla et al.   BLOOD

Phenotype variability in the Miller acrofacial dysostosis syndrome. Report of two further patients

(2010) K. H. Chrzanowska et al.   CLINICAL GENETICS

Mutations in genes encoding subunits of RNA polymerases I and III cause Treacher Collins syndrome

(2010) Johannes G Dauwerse et al.   NATURE GENETICS

Genetic comparison of a Croatian isolate and CEPH European founders

(2009) Pau Navarro et al.   GENETIC EPIDEMIOLOGY

Exome sequencing identifies the cause of a mendelian disorder

(2009) Sarah B Ng et al.   NATURE GENETICS

Inhibiting the Teratogenicity of the Immunosuppressant Leflunomide in Mice by Supplementation of Exogenous Uridine

(2009) Ryou Fukushima et al.   TOXICOLOGICAL SCIENCES

A variant or a “new” postaxial acrofacial dysostosis syndrome

(2008) Jerzy Sułko et al.   EUROPEAN JOURNAL OF PEDIATRICS