Associated Papers
Further delineation of defects in MRPS2 causing human OXPHOS deficiency and early developmental abnormalities in zebrafish.
Kandettu A et al.
European Journal of Human Genetics : Ejhg, 2025
New description of an MRPS2 homozygous patient: Further features to help expend the phenotype.
Papadopoulos T et al.
European Journal of Medical Genetics, 2024
Hypoglycemia with lactic acidosis caused by a new MRPS2 gene mutation in a Chinese girl: a case report.
Liu C et al.
Bmc Endocrine Disorders, 2022
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