ArticleFrontiers in endocrinology2026
Case Report: Proportionate short stature in a three-generation family harboring
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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Abstract
Objective: To report the identification of a Methods: Based on clinical and genetic data collected from the proband and short-statured relatives, we analyzed the clinical characteristics of the pedigree and the pathogenicity of the genetic variant. Results: A 3-year-old male presented with proportionate short stature and no dysmorphic features. Imaging studies revealed no significant skeletal abnormalities. Combined with the short stature observed in multiple family members, a clinical diagnosis of FSS was established. Whole-exome sequencing identified a maternally inherited heterozygous Conclusion: This is the first report of proportionate short stature associated with the
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