Expanding the Phenotype of the Founder South Asian Mutation in the Nuclear Encoding Mitochondrial RMND1 Gene

ConclusionsThus, to conclude, this report emphasizes the diagnostic value of FGF21 assay in this disorder. It extends the phenotype associated with the founder mutation inRMND1 gene in patients from South Asia.

Source: Indian Journal of Pediatrics - January 19, 2018 Category: Pediatrics Source Type: research