Combined pituitary hormone deficiency with unique pituitary dysplasia and morning glory syndrome related to a heterozygous PROKR2 mutation

Recent reports have indicated the role of the prokineticin receptor 2 gene (PROKR2) in the etiology of congenital hypopituitarism, including septo-optic dysplasia and Kallmann syndrome. In the present study, using next-generation targeted sequencing, we identified a novel heterozygous PROKR2 variant...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:Clin Pediatr Endocrinol
Main Authors: Asakura, Yumi, Muroya, Koji, Hanakawa, Junko, Sato, Takeshi, Aida, Noriko, Narumi, Satoshi, Hasegawa, Tomonobu, Adachi, Masanori
Formato: Artigo
Idioma:Inglês
Publicado em: The Japanese Society for Pediatric Endocrinology 2015
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4322290/
https://ncbi.nlm.nih.gov/pubmed/25678757
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1297/cpe.24.27
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados