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...

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Detalles Bibliográficos
Autores principales: Garg, Abhimanyu, Keng, Wee-Teik, Chen, Zhenkang, Sathe, Adwait Amod, Xing, Chao, Kailasam, Pavithira Devi, Shao, Yanqiu, Lesner, Nicholas P., Llamas, Claire B., Agarwal, Anil K., Mishra, Prashant
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society for Clinical Investigation 2022
Materias:
Concise Communication
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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9711873/
https://www.ncbi.nlm.nih.gov/pubmed/36282599
http://dx.doi.org/10.1172/JCI156864

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