Article
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.
Stem cell research - 1 Apr 2018
Altieri Filomena, Turco Elisa Maria, Vinci Ersilia, Torres Barbara, Ferrari Daniela, De Jaco Antonella, Mazzoccoli Gianluigi, Lamorte Giuseppe, Nardone Annamaria, Della Monica Matteo, Bernardini Laura, Vescovi Angelo Luigi, Rosati Jessica
Abstract excerpt
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 heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.
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