Associated Papers
Intellectual and Behavioral Phenotypes of Smith-Magenis Syndrome: Comparisons between Individuals with a 17p11.2 Deletion and Pathogenic RAI1 Variant.
Linders CC et al.
Genes, 2023
37628566 (PubMed )
Supplement: genes-14-01514-s001.zip › genes-2505576-supplementary.pdf
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
First-trimester cystic hygroma and neurodevelopmental disorders: The association to remember.
Pan M et al.
Taiwanese Journal of Obstetrics & Gynecology, 2020
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
RAI1 gene mutations: mechanisms of Smith-Magenis syndrome.
Falco M et al.
The Application of Clinical Genetics, 2017
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