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Phenotypic spectrum and genotype–phenotype correlations of NRXN1 exon deletions
Copy number variants (CNVs) and intragenic rearrangements of the NRXN1 (neurexin 1) gene are associated with a wide spectrum of developmental and neuropsychiatric disorders, including intellectualExpand
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Exon deletions of the EP300 and CREBBP genes in two children with Rubinstein–Taybi syndrome detected by aCGH
We demonstrate the utility of an exon coverage microarray platform in detecting intragenic deletions: one in exons 24–27 of the EP300 gene and another in exons 27 and 28 of the CREBBP gene in twoExpand
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The duplication 17p13.3 phenotype: Analysis of 21 families delineates developmental, behavioral and brain abnormalities, and rare variant phenotypes
Chromosome 17p13.3 is a gene rich region that when deleted is associated with the well‐known Miller–Dieker syndrome. A recently described duplication syndrome involving this region has beenExpand
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Mutations in the chromatin modifier gene KANSL1 cause the 17q21.31 microdeletion syndrome
We show that haploinsufficiency of KANSL1 is sufficient to cause the 17q21.31 microdeletion syndrome, a multisystem disorder characterized by intellectual disability, hypotonia and distinctive facialExpand
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Mutations in PURA cause profound neonatal hypotonia, seizures, and encephalopathy in 5q31.3 microdeletion syndrome.
5q31.3 microdeletion syndrome is characterized by neonatal hypotonia, encephalopathy with or without epilepsy, and severe developmental delay, and the minimal critical deletion interval harbors threeExpand
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Identical twin sisters with Rubinstein–Taybi syndrome associated with Chiari malformations and syrinx
Chiari malformations are multifactorial and heterogeneous entities, characterized by abnormalities in the posterior fossa. They have been identified in association with various genetic syndromes inExpand
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Teebi hypertelorism syndrome: report of a family with previously unrecognized findings.
We present a family consisting of a mother, a daughter, and a son with Teebi hypertelorism syndrome, including some previously unrecognized manifestations. The clinical findings include a prominentExpand
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Next generation deep sequencing corrects diagnostic pitfalls of traditional molecular approach in a patient with prenatal onset of Pompe disease
Pompe disease is a rare inherited metabolic disorder of glycogen metabolism caused by mutations in the GAA gene, encoding the acid α‐1,4 glucosidase. Successful diagnosis of Pompe disease is achievedExpand
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Late‐onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance
We report on the case of a 36‐year‐old Hispanic woman with a spinal cord infarct, who was subsequently diagnosed with methylmalonic aciduria and homocystinuria, cblC type (cblC). Mutation analysisExpand
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Novel SURF1 mutation in a child with subacute encephalopathy and without the radiological features of Leigh Syndrome
Mutations in SURF1, a gene involved in cytochrome‐c oxidase (COX) assembly, cause COX deficiency and Leigh Syndrome (LS). Typical presentation is in the first year of life, with failure to thrive,Expand
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