Publication: Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes
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Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., & Baumer, A. (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46, 192–197. https://doi.org/10.1136/jmg.2008.061820
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BACKGROUND: Silver-Russell syndrome (SRS) is a clinically and genetically heterogeneous condition characterized by severe intrauterine and postnatal growth retardation. Loss of DNA methylation at the telomeric imprinting control region 1 (ICR1) on 11p15 is an important cause of SRS. METHODS: We studied the methylation pattern at the H19-IGF2 locus in 201 patients with suspected SRS. In an attempt to categorize the patients into different subgroups, we developed a simple clinical scoring system with respect to readily and unambiguously
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- Bartholdi, D
- Krajewska-Walasek, M
- Ounap, K
- Gaspar, H
- Chrzanowska, K H
- Ilyana, H
- Kayserili, H
- Lurie, I W
- Schinzel, A
- Baumer, A
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Bartholdi, D., Krajewska-Walasek, M., Ounap, K., Gaspar, H., Chrzanowska, K. H., Ilyana, H., Kayserili, H., Lurie, I. W., Schinzel, A., & Baumer, A. (2009). Epigenetic mutations of the imprinted IGF2-H19 domain in Silver-Russell Syndrome (SRS): Results from a large cohort of patients with SRS and SRS-like phenotypes. Journal of Medical Genetics, 46, 192–197. https://doi.org/10.1136/jmg.2008.061820
