Article

Identification of a novel and a recurrent CDC45 variant in a Chinese family with Meier-Gorlin syndrome 7 and a literature review

2026-08-23

Abstract excerpt

Introduction Meier-Gorlin syndrome 7 (MGORS7) is a rare autosomal recessive disorder characterized by primordial dwarfism, craniosynostosis, and patellar aplasia, caused by pathogenic variants of CDC45 . Here, we report a Chinese patient presenting with classic hallmarks of MGORS7 alongside atypical clinical features, including hearing and visual impairments. Methods Clinical and radiological data were collected....

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Literature Corpus work: 69b396e7-0ba3-5722-87ab-202ff2416f22
DOI: 10.3389/fgene.2026.1893476

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