Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.

@article{Ahamed2008PermanentND,
  title={Permanent neonatal diabetes mellitus due to a C96Y heterozygous mutation in the insulin gene. A case report.},
  author={Anish Ahamed and Ambika Gopalakrishnan Unnikrishnan and Sanket Sharad Pendsey and Sheela Nampoothiri and N Lakshmi Bhavani and Valliyaparambil Pavithran Praveen and H M Suresh Kumar and Rohinivilasam Vasukutty Jayakumar and V Mohanan Nair and Sian Ellard and Emma L. Edghill},
  journal={JOP : Journal of the pancreas},
  year={2008},
  volume={9 6},
  pages={715-8}
}
CONTEXT Neonatal diabetes is a rare disorder with an incidence of 1 in 215,000-500,000 live births with 50% of them having permanent neonatal diabetes mellitus. CASE REPORT We present a case of permanent neonatal diabetes mellitus due to a C96Y (c.287G>A; p.Cys96Tyr) heterozygous mutation in the insulin (INS) gene. Both the patient and his father (who had… CONTINUE READING