A case of 5,10-methenyltetrahydrofolate synthetase deficiency due to biallelic null mutations with novel findings of elevated neopterin and macrocytic anemia

We describe a case of 5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency characterized by microcephaly, global developmental delay, epilepsy, and cerebral hypomyelination. Whole exome sequencing (WES) demonstrated homozygosity for the R74X mutation in the MTHFS gene. The patient had the une...

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Detalles Bibliográficos
Autores principales: Romero, Jacqueline A., Abdelmoumen, Imane, Hasbani, Daphne, Khurana, Divya S., Schneider, Michael C.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2019
Materias:
Short Communication
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6895676/
https://www.ncbi.nlm.nih.gov/pubmed/31844630
http://dx.doi.org/10.1016/j.ymgmr.2019.100545

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