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Article

Insights from the genetic characterization of central precocious puberty associated with multiple anomalies

22 Oct 2020

Abstract excerpt

STUDY QUESTION: Is there an (epi)genetic basis in patients with central precocious puberty (CPP) associated with multiple anomalies that unmasks underlying mechanisms or reveals novel genetic findings related to human pubertal control? SUMMARY ANSWER: In a group of 36 patients with CPP associated with multiple phenotypes, pathogenic or likely pathogenic (epi)genetic defects were identified in 12 (33%) patients,...

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PMID: 33313884
DOI: 10.1093/humrep/deaa306

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