Pathology
germline mutations of IL1RAPL1 in nonspecific X-linked mental retardation (MIM.300143)
References
Carrie, A.; Jun, L.; Bienvenu, T.; Vinet, M.-C.; McDonell, N.; Couvert, P.; Zemni, R.; Cardona, A.; Van Buggenhout, G.; Frints, S.; Hamel, B.; Moraine, C.; and 10 others : A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nature Genet. 23: 25-31, 1999. PubMed ID : 10471494
Tabolacci, E.; Pomponi, M. G.; Pietrobono, R.; Terracciano, A.; Chiurazzi, P.; Neri, G. : A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family. Am. J. Med. Genet. 140A: 482-487, 2006.