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Autosomal recessive progeroid syndrome due to homozygosity for a TOMM7 variant
Multiple genetic loci have been reported for progeroid syndromes. However, the molecular defects in some extremely rare forms of progeria have yet to be elucidated. Here, we report a 21-year-old man of Chinese ancestry who has an autosomal recessive form of progeria, characterized by severe dwarfism...
| Autores principales: | , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
American Society for Clinical Investigation
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9711873/ https://www.ncbi.nlm.nih.gov/pubmed/36282599 http://dx.doi.org/10.1172/JCI156864 |