Identification of the first patient with a confirmed mutation of the JAK-STAT system.
Rosenfeld RG, Kofoed E, Buckway C, Little B, Woods KA, Tsubaki J, Pratt KA, Bezrodnik L, Jasper H, Tepper A, Heinrich JJ, Hwa V.
Rosenfeld RG, et al.
Pediatr Nephrol. 2005 Mar;20(3):303-5. doi: 10.1007/s00467-004-1678-7. Epub 2005 Feb 2.
Pediatr Nephrol. 2005.
PMID: 15688233
Review.