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- Dhieb, Dhoha, et al. Show all 6 Authors
- Molecular biology reports 2016 v.43 no.3 pp. 165-173
- bioinformatics; hydrophobicity; computer software; protein structure; phenotype; DNA; failure to thrive; gene expression; amino acids; genotype; insulin resistance; patients; introns; sequence analysis; polymerase chain reaction; growth retardation; insulin; exons; sequence deletion; insulin receptors; RNA; Africa
- ... Donohue syndrome (DS) is a very rare autosomal recessive disease affecting less than one in a million life births. It represents the most severe form of insulin resistance due to mutations involving the insulin receptor (IR) gene “INSR”. DS is characterized by pre- and postnatal growth retardation with failure-to-thrive, lipoatrophy, acanthosis nigricans, hypertrichosis, and dysmorphic features. A ...