Exome sequencing identified novel variants in three Chinese patients with 5,10-methenyltetrahydrofolate synthetase deficiency

5,10-methenyltetrahydrofolate synthetase (MTHFS) deficiency is a folate metabolism disorder known as a rare autosomal recessive neurodevelopmental disorder (MIM: #618367). With central nervous system involvements, it is mainly characterized by developmental delay, epilepsy, microcephaly, hypertonia,...

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Detalles Bibliográficos
Autores principales: Xu, Xiaoyan, Zhu, Jing, Fang, Liwei, Zou, Zhuo, Yuan, Jingjing, Peng, Min, Yu, Guoliang, Wu, De, Liu, Yun, Tang, Jiulai
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545881/
https://www.ncbi.nlm.nih.gov/pubmed/37795244
http://dx.doi.org/10.3389/fgene.2023.1236849

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10545881/
https://www.ncbi.nlm.nih.gov/pubmed/37795244
http://dx.doi.org/10.3389/fgene.2023.1236849

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