Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 co...
Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
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United States
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English
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United States
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Smith-Magenis syndrome (SMS) is a complex disorder that includes mental retardation, craniofacial and skeletal anomalies, and behavioral abnormalities. We report the molecular and genotype-phenotype analyses of 31 patients with SMS who carry 17p11.2 deletions or mutations in the RAI1 gene.
Patients with SMS were evaluated by fluorescence in situ...
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Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum
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TN_cdi_proquest_miscellaneous_68646003
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https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_proquest_miscellaneous_68646003
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ISSN
1098-3600
DOI
10.1097/01.gim.0000228215.32110.89
