Case Report: Late-onset liver cirrhosis in an elderly patient with FBN1-related Geleophysic Dysplasia

BackgroundFBN1-related geleophysic dysplasia (GD2) is an ultrarare autosomal dominant disorder caused by dominant-negative missense variants in the TGFβ-binding protein-like domain 5 (TB5) of FBN1. It is characterized by severe short stature, brachydactyly, progressive joint stiffness, and cardiac v...

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Váldodahkkit:	Yuqi Liu, Ying Wang, Xiaochun Teng, Xiaoli Wang
Materiálatiipa:	Artigo
Giella:	Inglês
Almmustuhtton:	Frontiers Media S.A. 2026-09-01
Ráidu:	Frontiers in Endocrinology
Fáttát:	case report FBN1 gene Geleophysic dysplasia gene muatation liver cirrhosis
Liŋkkat:	https://www.frontiersin.org/articles/10.3389/fendo.2026.1822591/full
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