Last Updated: 09/26/2026
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Found 3 publications
Constitutional 560.49 kb chromosome 2p24.3 duplication including the MYCN gene identified by SNP chromosome microarray analysis in a child with multiple congenital anomalies and bilateral Wilms tumor.
Journal: European journal of medical genetics
Published: June 07, 2016
Velopharyngeal insufficiency, submucous cleft palate and a phonological disorder as the associated clinical features which led to the diagnosis of Jacobsen syndrome. Case report and review of the literature.
Journal: International journal of pediatric otorhinolaryngology
Published: April 16, 2013
Large duplication in MTM1 associated with myotubular myopathy.
Journal: Neuromuscular disorders : NMD
Published: July 23, 2012
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Last Updated: 09/26/2026