ArticleFrontiers in endocrinology2024
Novel
Article in Frontiers in endocrinology, 2024. 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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Authors and funding
7 authors.
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Abstract
Objective: The objective of this study is to investigate the clinical presentation and underlying genetic etiology of a Chinese child diagnosed with idiopathic central precocious puberty (ICPP). Methods: Clinical data from a pediatric patient with ICPP, including medical history, physical examination findings, laboratory results, and imaging studies, were collected and analyzed. Whole exome sequencing (WES) was performed to identify potential pathogenic genetic variants underlying the patient's ICPP. Results: A 4 ¾-year-old female patient presented with precocious puberty, characterized by accelerated growth, Tanner stage II breast development, and Tanner stage I pubic hair. A café-au-lait macule was observed on the patient's right flank. WES revealed a novel makorin RING finger protein 3 ( Conclusion: This case underscores the genetic heterogeneity of ICPP and further implicates
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