Georgitsi M, Raitila A, Karhu A, van der Luijt RB, Aalfs CM, Sane T, Vierimaa O, Makinen MJ, Tuppurainen K, Paschke R, Gimm O, Koch CA, Gundogdu S, Lucassen A, Tischkowitz M, Izatt L, Aylwin S, Bano G, Hodgson S, De Menis E, Launonen V, Vahteristo P, Aaltonen LA

Germline CDKN1B/p27Kip1 mutation in multiple endocrine neoplasia.

J Clin Endocrinol Metab 92:3321-5 (2007)
DOI:10.1210/jc.2006-2843

Molatore S, Marinoni I, Lee M, Pulz E, Ambrosio MR, degli Uberti EC, Zatelli MC, Pellegata NS

A novel germline CDKN1B mutation causing multiple endocrine tumors: clinical, genetic and functional characterization.

Hum Mutat 31:E1825-35 (2010)
DOI:10.1002/humu.21354

Tonelli F, Giudici F, Giusti F, Marini F, Cianferotti L, Nesi G, Brandi ML

A heterozygous frameshift mutation in exon 1 of CDKN1B gene in a patient affected by MEN4 syndrome.

Eur J Endocrinol 171:K7-K17 (2014)
DOI:10.1530/EJE-14-0080

Pellegata NS, Quintanilla-Martinez L, Siggelkow H, Samson E, Bink K, Hofler H, Fend F, Graw J, Atkinson MJ

Germ-line mutations in p27Kip1 cause a multiple endocrine neoplasia syndrome in rats and humans.

Proc Natl Acad Sci U S A 103:15558-63 (2006)
DOI:10.1073/pnas.0603877103