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Human Genome Epidemiology Literature Finder|Home|PHGKB

Human Genome Epidemiology Literature Finder


Last data update: Dec 1, 2023. (Total: 223516Documents)
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Records 1 - 2 (of 2 Records)

Query Trace: Septo-Optic Dysplasia and PROKR2[original query]
Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
The Journal of clinical endocrinology and metabolism 2012 Feb .
Raivio T, Avbelj M, McCabe MJ, Romero CJ, Dwyer AA, Tommiska J, Sykiotis GP, Gregory LC, Diaczok D, Tziaferi V, Elting MW, Padidela R, Plummer L, Martin C, Feng B, Zhang C, Zhou QY, Chen H, Mohammadi M, Quinton R, Sidis Y, Radovick S, Dattani MT, Pitteloud N
Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
The Journal of clinical endocrinology and metabolism 2013 Mar 98 (3): E547-57.
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
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