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...

Full description

Bibliographic Details

Published in:	The Journal of Clinical Investigation
Main Authors:	Abhimanyu Garg, Wee-Teik Keng, Zhenkang Chen, Adwait Amod Sathe, Chao Xing, Pavithira Devi Kailasam, Yanqiu Shao, Nicholas P. Lesner, Claire B. Llamas, Anil K. Agarwal, Prashant Mishra
Format:	Article
Language:	English
Published:	American Society for Clinical Investigation 2022-12-01
Subjects:	Endocrinology Genetics
Online Access:	https://doi.org/10.1172/JCI156864