Kagami-Ogata syndrome
Definition:
References:
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[1]. Giovanni Corsello, et al. Paternal uniparental disomy chromosome 14-like syndrome due a maternal de novo 160 kb deletion at the 14q32.2 region not encompassing the IG- and the MEG3-DMRs: Patient report and genotype-phenotype correlation. Am J Med Genet A. 2015 Dec;167A(12):3130-8. [Content Brief]
[2]. Masayo Kagami, et al. Deletions and epimutations affecting the human 14q32.2 imprinted region in individuals with paternal and maternal upd(14)-like phenotypes. Nat Genet. 2008 Feb;40(2):237-42. [Content Brief]
[3]. Tsutomu Ogata, et al. Kagami-Ogata syndrome: a clinically recognizable upd(14)pat and related disorder affecting the chromosome 14q32.2 imprinted region. J Hum Genet. 2016 Feb;61(2):87-94. [Content Brief]
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