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Article

FBN1 TB5 domain variants in acromelic dysplasia: multisystem manifestations, genotype-phenotype correlations, and partial responses to growth hormone therapy.

Frontiers in endocrinology - 1 Jan 2026

Zhang Jun, Huang Meng-Tian, Wang Bing, Lin Yan-Yan, Zheng Ru-Jiang, Xiao Huang-Meng, Ma Hua-Mei, Guo Song, Chen Qiu-Li, Li Yan-Hong

Abstract excerpt

Background: Acromelic dysplasias, including acromicric dysplasia (AD) and geleophysic dysplasia type 2 (GD2), are ultrarare disorders caused by FBN1 variants in the transforming growth factor-β-binding protein-like domain 5 (TB5). These conditions are characterized by severe short stature and variable multisystem involvement, but genotype-phenotype correlations and treatment responses remain incompletely defined....

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Identifiers

PMID: 42558297
DOI: 10.3389/fendo.2026.1883383
PMCID: PMC13437368

Genes

FBN1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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FBN1 TB5 domain variants in acromelic dysplasia: multisystem manifestations, genotype-phenotype correlations, and partial responses to growth hormone therapy.PMID 42558297Read ↗

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