Variations in PROKR2, But Not PROK2, Are Associated With Hypopituitarism and Septo-optic Dysplasia

CONTEXT: Loss-of-function mutations in PROK2 and PROKR2 have been implicated in Kallmann syndrome (KS), characterized by hypogonadotropic hypogonadism and anosmia. Recent data suggest overlapping phenotypes/genotypes between KS and congenital hypopituitarism (CH), including septo-optic dysplasia (SO...

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Main Authors: McCabe, Mark J., Gaston-Massuet, Carles, Gregory, Louise C., Alatzoglou, Kyriaki S., Tziaferi, Vaitsa, Sbai, Oualid, Rondard, Philippe, Masumoto, Koh-hei, Nagano, Mamoru, Shigeyoshi, Yasufumi, Pfeifer, Marija, Hulse, Tony, Buchanan, Charles R., Pitteloud, Nelly, Martinez-Barbera, Juan-Pedro, Dattani, Mehul T.
Format: Artigo
Language:Inglês
Published: Endocrine Society 2013
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JCEM Online: Advances in Genetics
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC3612801/
https://ncbi.nlm.nih.gov/pubmed/23386640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1210/jc.2012-3067
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