Ontology highlight
ABSTRACT:
SUBMITTER: Massadeh S
PROVIDER: S-EPMC6491806 | biostudies-literature | 2019
REPOSITORIES: biostudies-literature
Massadeh Salam S Umair Muhammad M Alaamery Manal M Alfadhel Majid M
Frontiers in neurology 20190424
<b>Background:</b> Severe 5,10-methylenetetrahydrofolate reductase (MTHFR) deficiency is a heterogeneous metabolic disorder inherited in an autosomal recessive manner. Pathogenic mutations in <i>MTHFR</i> gene have been associated with severe MTHFR deficiency. The clinical presentation of MTHFR deficiency is highly variable and associated with several neurological anomalies. <b>Methods:</b> Direct whole-exome sequencing (WES) was performed in all the five available individuals from the family, i ...[more]