Associated Papers
Retinoic acid-induced 1 gene haploinsufficiency alters lipid metabolism and causes autophagy defects in Smith-Magenis syndrome.
Turco EM et al.
Cell Death & Disease, 2022
Mosaic RAI1 variant in a Smith-Magenis syndrome patient with total anomalous pulmonary venous return.
Kuroda Y et al.
American Journal of Medical Genetics. Part A, 2022
35833697 (PubMed )
Supplement: supplement_1.pdf
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 et al.
Stem Cell Research, 2018
First evidence of Smith-Magenis syndrome in mother and daughter due to a novel RAI mutation.
Acquaviva F et al.
American Journal of Medical Genetics. Part A, 2017
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