Possible underreporting of pathogenic variants in RAI1 causing Smith–Magenis syndrome
Authors:
Open Access
- 4 June 2021
- journal article
- letter
- Published by Wiley in American Journal of Medical Genetics Part A
- Vol. 185 (10) , 3167-3169
Abstract
No abstract availableKeywords
This publication has 11 references indexed in Scilit:
- Genetic Testing in Neurodevelopmental DisordersFrontiers in Pediatrics, 2021
- RAI1 gene mutations: mechanisms of Smith–Magenis SyndromeThe Application of Clinical Genetics, 2017
- Sleep Complaints and the 24‐h Melatonin Level in Individuals with Smith–Magenis Syndrome: Assessment for Effective InterventionCNS Neuroscience & Therapeutics, 2016
- Evolution of Genetic Techniques: Past, Present, and BeyondBioMed Research International, 2015
- Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 DeletionPLOS ONE, 2011
- Smith–Magenis syndromeEuropean Journal of Human Genetics, 2008
- Gender, genotype, and phenotype differences in Smith–Magenis syndrome: a meta‐analysis of 105 casesClinical Genetics, 2007
- Genotype–phenotype correlation in Smith-Magenis syndrome: Evidence that multiple genes in 17p11.2 contribute to the clinical spectrumGenetics in Medicine, 2006
- Mutations in RAI1 associated with Smith–Magenis syndromeNature Genetics, 2003
- MOLECULAR ANALYSIS OF THE SMITH-MAGENIS SYNDROME - A POSSIBLE CONTIGUOUS-GENE SYNDROME ASSOCIATED WITH DEL(17)(P11.2)1991