Severe phenotype of an Iranian patient with methemoglobinemia type II due to a novel mutation in the CYB5R3 gene
نویسندگان
1 Department of Genetics, Marvdasht Branch, Islamic Azad University, Marvdasht, Iran
2 Department of Genetics, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran
3 Department of Genetics, Fars Science and Research Branch, Islamic Azad University, Marvdasht, Iran
4 Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran
5 Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz, Iran.
doi
10.18502/ijpho.v11i4.7173چکیده
Methemoglobinemia is a rare autosomal recessive genetic disease caused by disruptive mutations in the CYB5R3 gene (MIM: 250800). Herein, a novel mutation is reported in an Iranian patient affected with methemoglobinemia type II. In this case study, the patient is precisely described according to the thoroughly carried-out examinations and workups. In so ...
