Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome.
Eren Akarcan S, Edeer Karaca N, Aksu G, Aykut A, Yilmaz Karapinar D, Cetin F, Aydinok Y, Azarsiz E, Gambineri E, Cogulu O, Ulusoy Severcan E, Alper H, Kutukculer N.
Eren Akarcan S, et al. Among authors: aydinok y.
JMM Case Rep. 2018 Oct 15;5(10):e005167. doi: 10.1099/jmmcr.0.005167. eCollection 2018 Oct.
JMM Case Rep. 2018.
PMID: 30479781
Free PMC article.