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PMID:17299016

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Citation

Hyman, SL, Gill, DS, Shores, EA, Steinberg, A and North, KN (2007) T2 hyperintensities in children with neurofibromatosis type 1 and their relationship to cognitive functioning. J. Neurol. Neurosurg. Psychiatr. 78:1088-91

Abstract

Neurofibromatosis type 1 (NF1) is a single gene disorder associated with a high frequency of cognitive deficits and a complex cognitive phenotype. These cognitive deficits have been associated with focal areas of high signal intensity on T2 weighted MRI images but the relationship remains controversial.

Links

PubMed PMC2117545 Online version:10.1136/jnnp.2006.108134

Keywords

Adolescent; Attention Deficit Disorder with Hyperactivity/drug therapy; Attention Deficit Disorder with Hyperactivity/etiology; Brain Diseases/diagnosis; Brain Diseases/etiology; Brain Stem/pathology; Cerebellum/pathology; Child; Cognition Disorders/diagnosis; Cognition Disorders/etiology; Female; Gadolinium DTPA/diagnostic use; Humans; Intelligence Tests; Magnetic Resonance Imaging; Male; Neurofibromatosis 1/complications; Neuropsychological Tests; Thalamus/pathology

Significance

Annotations

Gene product Qualifier GO Term Evidence Code with/from Aspect Extension Notes Status

HUMAN:NF1

involved_in

GO:0050890: cognition

ECO:0000315: mutant phenotype evidence used in manual assertion

P

Seeded From UniProt

complete


See also

References

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