학술논문
A recurrent homozygous LMNA missense variant p.Thr528Met causes atypical progeroid syndrome characterized by mandibuloacral dysostosis, severe muscular dystrophy, and skeletal deformities.
Document Type
Article
Author
Source
American Journal of Medical Genetics. Part A; Sep2023, Vol. 191 Issue 9, p2274-2289, 16p
Subject
Language
ISSN
15524825
Abstract
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