Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients
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Publisher
England: Nature Publishing Group
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Language
English
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Publisher
England: Nature Publishing Group
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Contents
Immunodeficiency, centromeric instability and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder that shows DNA hypomethylation at pericentromeric satellite-2 and -3 repeats in chromosomes 1, 9 and 16. ICF syndrome is classified into two groups: type 1 (ICF1) patients have mutations in the DNMT3B gene and about half of type 2 (I...
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Full title
Three novel ZBTB24 mutations identified in Japanese and Cape Verdean type 2 ICF syndrome patients
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TN_cdi_hal_primary_oai_HAL_hal_03081795v1
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_hal_primary_oai_HAL_hal_03081795v1
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ISSN
1434-5161
E-ISSN
1435-232X
DOI
10.1038/jhg.2013.56
