Article
Chromosome instability and immunodeficiency syndrome caused by mutations in a DNA methyltransferase gene.
Nature - 11 Nov 1999
Xu G L, Bestor T H, Bourc'his D, Hsieh C L, Tommerup N, Bugge M, Hulten M, Qu X, Russo J J, Viegas-Péquignot E
Abstract excerpt
The recessive autosomal disorder known as ICF syndrome (for immunodeficiency, centromere instability and facial anomalies; Mendelian Inheritance in Man number 242860) is characterized by variable reductions in serum immunoglobulin levels which cause most ICF patients to succumb to infectious diseases before adulthood. Mild facial anomalies include hypertelorism, low-set ears, epicanthal folds and macroglossia....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.