ArticleFrontiers in endocrinology2026
Article in Frontiers in endocrinology, 2026. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Authors and funding
10 authors.
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Abstract
Background: Acromelic dysplasias, including acromicric dysplasia (AD) and geleophysic dysplasia type 2 (GD2), are ultrarare disorders caused by Objective: To characterize the clinical spectrum, genotype-phenotype correlations, and growth outcomes in a Chinese cohort of patients with Methods: We conducted a retrospective analysis of 14 patients with AD or GD2 from eight unrelated families. Clinical, radiographic, and genetic data were collected. Genotype-phenotype correlations were further explored by integrating data from two previously published cohorts (n = 52). Growth outcomes were evaluated in patients receiving recombinant human growth hormone (rhGH) therapy. Results: All patients exhibited severe short stature (mean height-SDS of -5.28 ± 1.13) with brachydactyly and delayed bone age. Multisystem involvement, including skeletal abnormalities, airway and otologic complications, skin thickening, joint limitation, hepatomegaly, and cardiopulmonary disease (50.0%, exclusively on GD2), was common. All the variants were heterozygous missense mutations clustered in the TB5 domain, including two novel Conclusion:
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