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Article

Expanded phenotypes and pathogenesis of geleophysic dysplasia 3 resulted from a de novo LTBP3 mutation: A case report.

Medicine - 20 Dec 2024

Liang Jie, Han Yu, Tao Huimin, Wang Xuezhen, Zhang Bei, Wu Jiebin, Zhai Jingfang

Abstract excerpt

RATIONALE: The aim of this study is to investigate the de novo mutation and clinical features of latent transforming growth factor-beta-binding protein 3 (LTBP3) gene-associated geleophysic dysplasia 3, and possible mechanisms of action. PATIENT CONCERNS: A nonconsanguineous couple was recruited for this study due to the presence of intrauterine growth restriction. The pregnant woman and her elder daughter...

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Identifiers

PMID: 39705488
DOI: 10.1097/MD.0000000000041000
PMCID: PMC11666154

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