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Hypopituitarism with pituitary stalk interruption

Disease ID:474
Name:Hypopituitarism with pituitary stalk interruption
Associated with:1 target


References:  1-2
Mutations:  PKR2 is associated with 6 mutation. Click here for details


No ligand related data available for Hypopituitarism with pituitary stalk interruption


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1. McCabe MJ, Gaston-Massuet C, Gregory LC, Alatzoglou KS, Tziaferi V, Sbai O, Rondard P, Masumoto KH, Nagano M, Shigeyoshi Y et al.. (2013) Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia. J. Clin. Endocrinol. Metab., 98 (3): E547-57. [PMID:23386640]

2. Reynaud R, Jayakody SA, Monnier C, Saveanu A, Bouligand J, Guedj AM, Simonin G, Lecomte P, Barlier A, Rondard P et al.. (2012) PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption. J. Clin. Endocrinol. Metab., 97 (6): E1068-73. [PMID:22466334]