Article
Relaxation of imprinting in Prader-Willi syndrome.
Human genetics - 1 Dec 1998
Rogan P K, Seip J R, White L M, Wenger S L, Steele M W, Sperling M A, Menon R, Knoll J H
Abstract excerpt
We describe two Prader-Willi syndrome (PWS) patients who exhibit maternal uniparental disomy (UPD) of chromosome 15 and unusual patterns of gene expression and DNA replication. Both were diagnosed during infancy as having PWS; however, their growth and development were atypical compared with others with this condition. Weight was below normal in the first patient, and height and development were within normal...
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