| Article ID | Journal | Published Year | Pages | File Type |
|---|---|---|---|---|
| 8425543 | Stem Cell Research | 2018 | 4 Pages |
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 heterozygous mutations affecting RAI1 coding region. Little is known about RAI1 role.
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Authors
Filomena Altieri, Elisa Maria Turco, Ersilia Vinci, Barbara Torres, Daniela Ferrari, Antonella De Jaco, Gianluigi Mazzoccoli, Giuseppe Lamorte, Annamaria Nardone, Matteo Della Monica, Laura Bernardini, Angelo Luigi Vescovi, Jessica Rosati,