Article
A new and a reclassified ICF patient without mutations in DNMT3B and its interacting proteins SUMO-1 and UBC9.
American journal of medical genetics. Part A - 1 Jul 2005
Kloeckener-Gruissem Barbara, Betts David R, Zankl Andreas, Berger Wolfgang, Güngör Tayfun
Abstract excerpt
The ICF syndrome (immunodeficiency, centromeric instability, facial anomalies) (OMIM#242860) is a rare autosomal, recessively inherited disorder. Another rare condition, ischiadic hypoplasia, renal dysgenesis, immunodeficiency, and polydactyly (IHRDIP, OMIM#243340), displays features that resemble those of the ICF syndrome. Due to the overlapping symptoms in both syndromes, we asked whether a shared underlying...
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