| Literature DB >> 27640350 |
Mihaela S Dimitrova-Mladenova1, Elisaveta M Stefanova2, Maria Glushkova3, Albena P Todorova3, Tihomir Todorov4, Maia M Konstantinova2, Krasimira Kazakova2, Radka S Tincheva2.
Abstract
Ten girls with sporadic central precocious puberty were screened for mutations in the maternally imprinted gene MKRN3. We detected 1 novel frameshift mutation (p.Arg351Serfs*44) and a previously described mutation (p.Pro161Argfs*10). In the course of investigating the family, genetic analysis found 2 asymptomatic males with paternally inherited MKRN3 mutations, which has not been reported in previous studies.Entities:
Keywords: central precocious puberty; epigenetic mechanisms; maternal imprinting; novel mutation
Mesh：
Substances：
Year: 2016 PMID： 27640350 DOI： 10.1016/j.jpeds.2016.08.065
Source DB: PubMed Journal: J Pediatr ISSN： 0022-3476 Impact factor: 4.406