ArticleFrontiers in endocrinology2021
Pathogenic and Low-Frequency Variants in Children With Central Precocious Puberty.
Article in Frontiers in endocrinology, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
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Who cites it
10 citing papers in PubMed, 15 citations in OpenAlex.
- Association Study BetweenInternational journal of molecular sciences · 2026Article
- Idiopathic Central Precocious Puberty in Boys: Results from a National Portuguese Cohort.Hormone research in paediatrics · 2026Article
- Serum and serum-derived extracellular vesicle microRNA signatures linked to neurodevelopmental processes in central precocious puberty.Frontiers in endocrinology · 2026Article
- A genomic strategy for precision medicine in rare diseases: integrating customized algorithms into clinical practice.Journal of translational medicine · 2025Article
- Genetic diagnosis of endocrine disorders in Cyprus through the Cyprus Institute of Neurology and Genetics: an ENDO-ERN Reference Center.Orphanet journal of rare diseases · 2024Article
- [Recent advances in the genetic etiology of central precocious puberty].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024Review
- Review
- Methylation status of hypothalamicFrontiers in endocrinology · 2022Article
- A review of the genetics and epigenetics of central precocious puberty.Frontiers in endocrinology · 2022Review
- Genetic variants of G-protein coupled receptors associated with pubertal disorders.Reproductive medicine and biologyReview
Corrections and comments
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Authors and funding
17 authors at 7 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Background: Central precocious puberty (CPP) due to premature activation of GnRH secretion results in early epiphyseal fusion and to a significant compromise in the achieved final adult height. Currently, few genetic determinants of children with CPP have been described. In this translational study, rare sequence variants in Methods: Fifty-four index girls and two index boys with CPP were first tested by Sanger sequencing for the Results: Three previously described pathogenic Conclusion: The results of the present study confirm the importance of the MKRN3-imprinted gene in genetics of CPP and its key role in pubertal timing. Overall, the results of the present study have emphasized the importance of an approach that aligns genetics and clinical aspects, which is necessary for the management and treatment of CPP.
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