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

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 H...

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Detalles Bibliográficos
Autores principales: Kang, Pengjiang, Zhang, Weihua, Wen, Jinquan, Zhang, Jiming, Li, Fei, Sun, Wuxia
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Pediatrics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017196/
https://www.ncbi.nlm.nih.gov/pubmed/33816400
http://dx.doi.org/10.3389/fped.2021.630329

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8017196/
https://www.ncbi.nlm.nih.gov/pubmed/33816400
http://dx.doi.org/10.3389/fped.2021.630329

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