Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.

@article{RubioCabezas2009WolcottRallisonSI,
  title={Wolcott-Rallison syndrome is the most common genetic cause of permanent neonatal diabetes in consanguineous families.},
  author={Oscar Rubio-Cabezas and Ann-Marie Patch and Jayne A. L. Minton and Sarah E Flanagan and Emma L. Edghill and Khalid Hussain and Amina Balafrej and Asma Deeb and Charles R. Buchanan and Ian G Jefferson and Angham Mutair and Andrew T Hattersley and Sian Ellard},
  journal={The Journal of clinical endocrinology and metabolism},
  year={2009},
  volume={94 11},
  pages={4162-70}
}
CONTEXT AND OBJECTIVE Mutations in EIF2AK3 cause Wolcott-Rallison syndrome (WRS), a rare recessive disorder characterized by early-onset diabetes, skeletal abnormalities, and liver dysfunction. Although early diagnosis is important for clinical management, genetic testing is generally performed after the full clinical picture develops. We aimed to identify… CONTINUE READING