Article
Prenatal phenotype of FBXL4-associated encephalomyopathic mitochondrial DNA depletion syndrome-13.
Prenatal diagnosis - 1 Dec 2022
Saini Neelam, Vijayasree Venkatapuram, Nandury Eshwar Chandra, Dalal Ashwin, Aggarwal Shagun
Abstract excerpt
FBXL4 -associated encephalomyopathic mitochondrial DNA depletion syndrome-13 (MTDPS13) is a rare genetic disorder characterized by early neonatal onset of encephalopathy, seizures, lactic acidosis, hypotonia, dysmorphism, and severe global developmental delay. Prenatal phenotype of molecularly confirmed MTDPS13 has not been well studied. This is the case report of a non-consanguineously conceived fetus...
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