Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behaviouralproblems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containingretinoic 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
Jessica Rosati
2018-01-01
Abstract
Smith-Magenis syndrome (SMS) is a complex genetic disorder characterized by developmental delay, behaviouralproblems and circadian rhythm dysregulation. About 90% of SMS cases are due to a 17p11.2 deletion containingretinoic acid induced1 (RAI1) gene, 10% are due to heterozygousmutations affecting RAI1 coding region.Little is known about RAI1 role.File in questo prodotto:
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