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Two male siblings with a novel LRBA mutation presenting with different findings of IPEX syndrome
Eren Akarcan, Sanem, Edeer Karaca, Neslihan, Aksu, Guzide, Aykut, Ayca, Yilmaz Karapinar, Deniz, Cetin, Funda, Aydinok, Yesim, Azarsiz, Elif, Gambineri, Eleonora, Cogulu, Ozgur, Ulusoy Severcan, Ezgi,Volume:
5
Journal:
JMM Case Reports
DOI:
10.1099/jmmcr.0.005167
Date:
October, 2018
File:
PDF, 1.90 MB
2018