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Molecular screening of PROKR2 gene in girls with idiopathic central precocious puberty

BACKGROUND: Prokineticin receptor 2 (PROKR2) loss of function mutations have been described as cause of hypogonadotropic hypogonadism. In 2017, a first case of central precocious puberty (CPP) caused by PROKR2 heterozygous gain of function mutation was described in a 3.5 years-old girl. No other cas...

詳細記述

保存先:
書誌詳細
出版年:Ital J Pediatr
主要な著者: Aiello, Francesca, Cirillo, Grazia, Cassio, Alessandra, Di Mase, Raffaella, Tornese, Gianluca, Umano, Giuseppina R., Miraglia del Giudice, Emanuele, Grandone, Anna
フォーマット: Artigo
言語:Inglês
出版事項: BioMed Central 2021
主題:
オンライン・アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC7792053/
https://ncbi.nlm.nih.gov/pubmed/33413516
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13052-020-00951-z
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