Associated Papers
Growth Hormone Response in a Child With a Homozygous TOMM7 Mutation: Novel Therapeutic Insights.
Liu S et al.
The American Journal of Case Reports, 2025
Clinical manifestations and pathogenesis of mitochondrial dysfunction in short stature.
Jiang Y et al.
World Journal of Pediatrics : Wjp, 2025
Bi-Allelic Splicing Variant, c.153-2A > C in TOMM7 Is Associated With Leigh Syndrome.
Yeole M et al.
American Journal of Medical Genetics. Part A, 2025
Homozygous variant in translocase of outer mitochondrial membrane 7 leads to metabolic reprogramming and microcephalic osteodysplastic dwarfism with moyamoya disease.
Li CY et al.
Ebiomedicine, 2024
Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant.
Garg A et al.
The Journal of Clinical Investigation, 2022
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