48 results

... Potocki-Lupski syndrome [ Yuan et al 2015 ]. Differential Diagnosis Smith-Magenis syndrome (SMS) should be distinguished from other syndromes that ... Delay / Intellectual Disability of Interest in the Differential Diagnosis of Smith-Magenis Syndrome View in own window Gene / Genetic Mechanism Disorder ...

... P, Vilboux T, Ciccone C, et al. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ...

... P, Vilboux T, Ciccone C, et al. Delayed diagnosis in a house of correction: Smith-Magenis syndrome due to a de novo nonsense RAI1 variant. ...

... normal RAI1 testing prior to establishing the correct diagnosis. 4. Approximately 95% of individuals with Smith-Magenis syndrome have the disorder as a result of an ...

... AR = autosomal recessive ; DD = developmental delay; DiffDx = differential diagnosis; ID = intellectual disability; ML = mucolipidosis; MOI = mode of inheritance ; MPS = mucopolysaccharidosis; XL = X-linked 1. Smith-Magenis syndrome is caused either by a 17p11.2 deletion ...

... phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome. Hum Mol Genet. 2005; 14 :983–95. [ PubMed : 15746153 ] Bravo C, Gámez F, Pérez R, Águarón A, De León-Luis J. Prenatal diagnosis of Potocki-Lupski syndrome in a fetus with ...

... Prader-Willi syndrome, Rett syndrome, Rubinstein-Taybi syndrome, Smith-Magenis ... an “etiologic diagnosis,” that is, whether a patient who has an ...

... distinctive findings should be considered in the differential diagnosis. See OMIM ... Smith-Magenis syndrome (SMS) [ White et al 2016 ]. SMS, an autosomal ...

... Table 2. Disorders to Consider in the Differential Diagnosis of Kleefstra Syndrome View in own ... Smith-Magenis syndrome Deletion or mutation of RAI1 on chromosome ...