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Smith-Magenis syndrome.
De Leersnyder H. Handb Clin Neurol 2013 - Review. PMID 23622179
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmorphic features, and congenital anomalies ascribed to an interstitial deletion of chromosome 17p11.2. ...
Smith-Magenis syndrome (SMS) is a mental retardation syndrome with distinctive behavioral characteristics, dysmo
Auditory Phenotype of Smith-Magenis Syndrome.
Brendal MA, et al. J Speech Lang Hear Res 2017. Among authors: Smith ACM. PMID 28384694 Free PMC article.
PURPOSE: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome (SMS), a rare disorder including physical anomalies, cognitive deficits, sleep disturbances, and a distinct behavioral phenotype. ...
PURPOSE: The purpose of this study was to describe the auditory phenotype of a large cohort with Smith-Magenis syndrome
De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome.
Vetrini F, et al. Genome Med 2019. PMID 30819258 Free PMC article.
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis syndrome (deletion/haploinsufficiency) and Potocki-Lupski syndrome (duplication/triplosensitivity). ...CONCLUSIONS: TCF20 pathogenic variants are associated with a novel syndrome manifesting clinical characteristics similar to those observed in Smith-Magenis syndrome. ...
TCF20 encodes a transcriptional co-regulator structurally related to RAI1, the dosage-sensitive gene responsible for Smith-Magenis
Exome analysis of Smith-Magenis-like syndrome cohort identifies de novo likely pathogenic variants.
Berger SI, et al. Hum Genet 2017. Among authors: Smith ACM. PMID 28213671 Free PMC article.
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disability (ID), and sleep disturbances, results from a 17p11.2 microdeletion or a mutation in the RAI1 gene. ...NDN is maternally imprinted within the 15q11.2 Prader-Willi Syndrome (PWS) region. This can help clarify NDN's role in the PWS phenotype. ...
Smith-Magenis syndrome (SMS), a neurodevelopmental disorder characterized by dysmorphic features, intellectual disabili
Moyamoya in a Patient with Smith-Magenis Syndrome.
Freeman J, et al. Pediatr Neurosurg 2017. PMID 28380489
Occurrence of moyamoya syndrome in a patient with Smith-Magenis syndrome (SMS) has previously been reported once in a 10-year-old Asian female. ...
Occurrence of moyamoya syndrome in a patient with Smith-Magenis syndrome (SMS) has previously been reported once …
Smith-Magenis Syndrome Patients Often Display Antibody Deficiency but Not Other Immune Pathologies.
Perkins T, et al. J Allergy Clin Immunol Pract 2017. PMID 28286158 Free PMC article.
BACKGROUND: Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder associated with recurrent otitis. Most SMS cases result from heterozygous interstitial chromosome 17p11.2 deletions that encompass not only the intellectual disability gene retinoic acid-induced 1 but also other genes associated with immunodeficiency, autoimmunity, and/or malignancy. ...
BACKGROUND: Smith-Magenis syndrome (SMS) is a complex neurobehavioral disorder associated with recurrent otitis. Most S …
Early adolescent Rai1 reactivation reverses transcriptional and social interaction deficits in a mouse model of Smith-Magenis syndrome.
Huang WH, et al. Proc Natl Acad Sci U S A 2018. PMID 30275311 Free PMC article.
Haploinsufficiency of Retinoic Acid Induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), a syndromic autism spectrum disorder associated with craniofacial abnormalities, intellectual disability, and behavioral problems. ...
Haploinsufficiency of Retinoic Acid Induced 1 (RAI1) causes Smith-Magenis syndrome (SMS), a syndromic autism spectrum d …
[Smith-Magenis syndrome is an association of behavioral and sleep/wake circadian rhythm disorders].
Poisson A, et al. Arch Pediatr 2015. PMID 25934608 French.
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech delay, as well as behavioral and sleep/wake circadian rhythm disorders. ...
Smith-Magenis syndrome (SMS) is a genetic disorder characterized by the association of facial dysmorphism, oral speech
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