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Encyclopedia > ICF syndrome

In medicine, immunodeficiency, centromere instability and facial anomalies syndrome (ICF syndrome) is a very rare recessive autosomal disorder.


It is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. ICF syndrome patients exhibit facial anomalies which include hypertelorism, low-set ears, epicanthal folds and macroglossia.


  Results from FactBites:
 
Icf Syndrome (178 words)
High frequencies of ICF syndrome-like pericentromeric heterochromatin decondensation and breakage in chromosome 1 in a chorionic villus sample...
The DNMT3B DNA methyltransferase gene is mutated in the ICF...
Genetics The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome R. Scott Hansen*,, Cisca Wijmenga, Ping Luo*,
  More results at FactBites »


 

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