Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygousmutations affecting RAI1 coding region. Little is known about RAI1 role.
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome / Altieri, F., Turco, E.M., Vinci, E., Torres, B., Ferrari, D., DE JACO, A., Mazzoccoli, G., Lamorte, G., Nardone, A., Della Monica, M., Bernardini, L., Luigi Vescovi, A., Rosati, J.D.. - In: STEM CELL RESEARCH. - ISSN 1876-7753. - ELETTRONICO. - 28:(2018), pp. 153-156. [10.1016/j.scr.2018.02.016]
Production and characterization of CSSI003 (2961) human induced pluripotent stem cells (iPSCs) carrying a novel puntiform mutation in RAI1 gene, Causative of Smith–Magenis syndrome
Elisa Maria Turco;Barbara Torres;Daniela Ferrari;Antonella De Jaco;Laura Bernardini;Jessica Rosati
2018
Abstract
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behavioural problems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containing retinoic acid induced1 (RAI1) gene, 10% are due to heterozygousmutations affecting RAI1 coding region. Little is known about RAI1 role.| File | Dimensione | Formato | |
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