A case of familial central precocious puberty caused by a novel mutation in the makorin RING finger protein 3 gene

BACKGROUND: Central precocious puberty (CPP) is often familial but its genetic cause is largely unknown. Very recently, the makorin RING finger protein 3 (MKRN3) gene, located on chromosome 15 in the Prader-Willi syndrome (PWS)-associated region (15q11-q13), has been found mutated in 5 families with...

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Библиографические подробности
Опубликовано в: :BMC Endocr Disord
Главные авторы: Grandone, Anna, Cantelmi, Grazia, Cirillo, Grazia, Marzuillo, Pierluigi, Luongo, Caterina, Miraglia del Giudice, Emanuele, Perrone, Laura
Формат: Artigo
Язык:Inglês
Опубликовано: BioMed Central 2015
Предметы:
Case Report
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC4619005/
https://ncbi.nlm.nih.gov/pubmed/26499472
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12902-015-0056-8
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