Case Report: Genetic and Clinical Features of Maternal Uniparental Isodisomy-Induced Thiamine-Responsive Megaloblastic Anemia Syndrome

• Main Authors: Pengjiang Kang (Author), Weihua Zhang (Author), Jinquan Wen (Author), Jiming Zhang (Author), Fei Li (Author), Wuxia Sun (Author)
• Formato: Libro
• Publicado: Frontiers Media S.A., 2021-03-01T00:00:00Z.
• Subjects: article
• Acceso en liña: Connect to this object online.

Background: Thiamine-responsive megaloblastic anemia syndrome (TRMA) is a rare autosomal recessive hereditary disease due to mutations in SLC19A2. Some cases show familial inheritance.Case report: A female patient (from a gravida 1, para 1 mother) of 3.5 years of age was admitted to the Pediatric He...