Hypomethylation in the 11p15 telomeric imprinting domain in a patient with Silver-Russell syndrome with a CSH1 deletion (17q24) renders a functional role of this alteration unlikely.
Eggermann
Thomas
T
Schönherr
Nadine
N
Eggermann
Katja
K
Wollmann
Hartmut
H
D000015:Abnormalities, Multiple / Q000235:genetics*; D015139:Blotting, Southern; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics* / Q000648:ultrastructure; D019175:DNA Methylation; D044127:Epigenesis, Genetic; D018392:Genomic Imprinting / Q000235:genetics; D006801:Humans; D010928:Placental Lactogen / Q000235:genetics* / Q000502:physiology; D013577:Syndrome; D016615:Telomere / Q000235:genetics
D010928:Placental Lactogen