Article
Genomic imbalance in the centromeric 11p15 imprinting center in three families: Further evidence of a role for IC2 as a cause of Russell-Silver syndrome.
American journal of medical genetics. Part A - 1 Oct 2016
Cytrynbaum Cheryl, Chong Karen, Hannig Vickie, Choufani Sanaa, Shuman Cheryl, Steele Leslie, Morgan Thomas, Scherer Stephen W, Stavropoulos Dimitri J, Basran Raveen K, Weksberg Rosanna
Abstract excerpt
Russell-Silver syndrome is a heterogeneous disorder characterized by intrauterine growth retardation, postnatal growth deficiency, characteristic facial appearance, and other variable features. Genetic and epigenetic alterations are identified in about 60% of individuals with Russell-Silver syndrome. Most frequently, Russell-Silver syndrome is caused by altered gene expression on chromosome 11p15 due to loss of...
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