Interstitial deletion of 11q-implicating theKIRREL3gene in the neurocognitive delay associated with Jacobsen syndrome

Volume: 158A, Issue: 10, Pages: 2551 - 2556
Published: Sep 10, 2012
Abstract
Jacobsen syndrome (JS) is a rare contiguous gene disorder characterized by a deletion within the distal part of the long arm of chromosome 11 ranging in size from 7 to 20 Mb. The clinical findings include characteristic dysmorphic features, growth and psychomotor delays and developmental anomalies involving the brain, eyes, heart, kidneys, immune, hematologic, endocrine, and gastrointestinal systems. The majority of cases are due to a terminal...
Paper Details
Title
Interstitial deletion of 11q-implicating theKIRREL3gene in the neurocognitive delay associated with Jacobsen syndrome
Published Date
Sep 10, 2012
Volume
158A
Issue
10
Pages
2551 - 2556
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