Publication: Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype
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Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M. P., Innes, M., Davies, C., González-Meneses López, A., Casalone, R., … Brunner, H. G. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46, 598–606. https://doi.org/10.1136/jmg.2008.062950
Abstract
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Abstract
BACKGROUND: The 9q subtelomeric deletion syndrome (9qSTDS) is clinically characterised by moderate to severe mental retardation, childhood hypotonia and facial dysmorphisms. In addition, congenital heart defects, urogenital defects, epilepsy and behavioural problems are frequently observed. The syndrome can be either caused by a submicroscopic 9q34.3 deletion or by intragenic EHMT1 mutations leading to haploinsufficiency of the EHMT1 gene. So far it has not been established if and to what extent other genes in the 9q34.3 region contri
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Creators (Authors)
- Kleefstra, T
- van Zelst-Stams, W A
- Nillesen, W M
- Cormier-Daire, V
- Houge, G
- Foulds, N
- van Dooren, M
- Willemsen, M H
- Pfundt, R
- Turner, A
- Wilson, M
- McGaughran, J
- Rauch, A
- Zenker, M
- Adam, M P
- Innes, M
- Davies, C
- González-Meneses López, A
- Casalone, R
- Weber, A
- Brueton, L A
- Delicado Navarro, A
- Palomares Bralo, M
- Venselaar, H
- Stegmann, S P A
- Yntema, H G
- van Bokhoven, H
- Brunner, H G
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Kleefstra, T., van Zelst-Stams, W. A., Nillesen, W. M., Cormier-Daire, V., Houge, G., Foulds, N., van Dooren, M., Willemsen, M. H., Pfundt, R., Turner, A., Wilson, M., McGaughran, J., Rauch, A., Zenker, M., Adam, M. P., Innes, M., Davies, C., González-Meneses López, A., Casalone, R., … Brunner, H. G. (2009). Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype. Journal of Medical Genetics, 46, 598–606. https://doi.org/10.1136/jmg.2008.062950
