Associated Papers
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
MBD5 haploinsufficiency is associated with sleep disturbance and disrupts circadian pathways common to Smith-Magenis and fragile X syndromes.
Mullegama SV et al.
European Journal of Human Genetics : Ejhg, 2015
Identification of Nine New RAI1-Truncating Mutations in Smith-Magenis Syndrome Patients without 17p11.2 Deletions.
Dubourg C et al.
Molecular Syndromology, 2014
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