Mutations in both SAMD9 and SLC19A2 genes caused complex phenotypes characterized by recurrent infection, dysphagia and profound deafness - a case report for dual diagnosis.
Yan ZhangYi ZhangVictor Wei ZhangChunyi ZhangHongke DingAi-Hua YinPublished in: BMC pediatrics (2019)
Combining the phenotype and clinical progress of treatment, we report that it is the first case of a patient with both MIRAGE syndrome and TRMA syndrome.