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...

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Detalles Bibliográficos
Autores principales: Asakura, Yumi, Muroya, Koji, Hanakawa, Junko, Sato, Takeshi, Aida, Noriko, Narumi, Satoshi, Hasegawa, Tomonobu, Adachi, Masanori
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Japanese Society for Pediatric Endocrinology 2015
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4322290/
https://www.ncbi.nlm.nih.gov/pubmed/25678757
http://dx.doi.org/10.1297/cpe.24.27

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