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Neonatal non-ketotic hyperglycinemia.
Nicolasjilwan M, Ozer H, Wintermark M, Matsumoto J. Nicolasjilwan M, et al. J Neuroradiol. 2011 Oct;38(4):246-50. doi: 10.1016/j.neurad.2010.11.005. Epub 2011 Feb 26. J Neuroradiol. 2011. PMID: 21354623
Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.
Suleiman J, Riedhammer KM, Jicinsky T, Mundt M, Werner L, Gusic M, Burgemeister AL, Alsaif HS, Abdulrahim M, Moghrabi NN, Nicolas-Jilwan M, AlSayed M, Bi W, Sampath S, Alkuraya FS, El-Hattab AW. Suleiman J, et al. Among authors: nicolas jilwan m. Hum Mutat. 2019 Nov;40(11):1985-1992. doi: 10.1002/humu.23844. Epub 2019 Jul 22. Hum Mutat. 2019. PMID: 31209944
14 results