过去一年中添加的文章,按日期排序

Rare variants in the MECP2 gene in girls with central precocious puberty

J Read, L Guasti, A Paganoni… - Endocrine …, 2023 - endocrine-abstracts.org
231 天前 - puberty onset through regulation of the GnRH neuronal axis. Loss-of-function mutations
… , a severe neurodevelopment disorder characterized by developmental regression and …

[HTML][HTML] Precocious puberty: Types, pathogenesis and updated management

A Alghamdi - Cureus, 2023 - ncbi.nlm.nih.gov
246 天前 - … Patients with the mutant DLK1 gene exhibited advanced bone age, and the … KISS1:
Rare, isolated cases of mutant KISS1 genes have been explained in CPP [47]. KISS1 [and …

THU191 Update On The Etiological Diagnosis Of Central Precocious Puberty In Both Sexes

AP Machado Canton, AC Latronico… - Journal of the …, 2023 - academic.oup.com
258 天前 - … Background: The etiological investigation of central precocious puberty (CPP) has
… The genetic/epigenetic defects were MKRN3 inactivating mutations (n=8, from 7 families…