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Article

The third case of Marbach-Rustad progeroid syndrome caused by a de novo LEMD2 variant.

Clinical genetics - 1 Feb 2024

Lu Zhikun, Zhang Wen, Mao Xiaojian, Li Duan, Chen Xiaodan, Liu Li, Lin Yunting

Abstract excerpt

Marbach-Rustad progeroid syndrome is an extremely rare disease caused by a heterozygous variant in the LEMD2 gene. To date, only two patients and one LEMD2 pathogenic variant have been reported in Marbach-Rustad progeroid syndrome. Here we describe the third case of Marbach-Rustad progeroid syndrome worldwide, which is also the first case in China. The proband was affected with premature birth, failed to thrive,...

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PMID: 37867468
DOI: 10.1111/cge.14441

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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