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Exome sequencing finds a novel PCSK1 mutation in a child with generalized malabsorptive diarrhea and diabetes insipidus.
Yourshaw M, Solorzano-Vargas RS, Pickett LA, Lindberg I, Wang J, Cortina G, Pawlikowska-Haddal A, Baron H, Venick RS, Nelson SF, Martín MG. Yourshaw M, et al. Among authors: pawlikowska haddal a. J Pediatr Gastroenterol Nutr. 2013 Dec;57(6):759-67. doi: 10.1097/MPG.0b013e3182a8ae6c. J Pediatr Gastroenterol Nutr. 2013. PMID: 24280991 Free PMC article.
Exome sequencing for the diagnosis of 46,XY disorders of sex development.
Baxter RM, Arboleda VA, Lee H, Barseghyan H, Adam MP, Fechner PY, Bargman R, Keegan C, Travers S, Schelley S, Hudgins L, Mathew RP, Stalker HJ, Zori R, Gordon OK, Ramos-Platt L, Pawlikowska-Haddal A, Eskin A, Nelson SF, Délot E, Vilain E. Baxter RM, et al. Among authors: pawlikowska haddal a. J Clin Endocrinol Metab. 2015 Feb;100(2):E333-44. doi: 10.1210/jc.2014-2605. Epub 2014 Nov 10. J Clin Endocrinol Metab. 2015. PMID: 25383892 Free PMC article.
12 results