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...

Deskribapen osoa

Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:BMC Endocr Disord
Egile Nagusiak: Grandone, Anna, Cantelmi, Grazia, Cirillo, Grazia, Marzuillo, Pierluigi, Luongo, Caterina, Miraglia del Giudice, Emanuele, Perrone, Laura
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2015
Gaiak:
Case Report
Sarrera elektronikoa: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
Etiketak: Etiketa erantsi
Etiketarik gabe, Izan zaitez lehena erregistro honi etiketa jartzen!

Antzeko izenburuak