Brain abnormalities in patients with Beckwith-Wiedemann syndrome

Beckwith–Wiedemann syndrome (BWS) is an overgrowth disorder with variability in clinical manifestations and molecular causes. In most cases, patients with BWS have normal development. Cases with developmental delay are usually attributed to neonatal hypoglycemia or chromosome abnormalities involving...

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Veröffentlicht in:	American journal of medical genetics. Part A 2012-06, Vol.158A (6), p.1388-1394
Hauptverfasser:	Gardiner, Kate, Chitayat, David, Choufani, Sanaa, Shuman, Cheryl, Blaser, Susan, Terespolsky, Deborah, Farrell, Sandra, Reiss, Rosemary, Wodak, Shoshana, Pu, Shuye, Ray, Peter N., Baskin, Berivan, Weksberg, Rosanna
Format:	Artikel
Sprache:	eng
Schlagworte:	Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome - complications Beckwith-Wiedemann Syndrome - diagnosis Beckwith-Wiedemann Syndrome - genetics Biological and medical sciences Brain - abnormalities Brain - pathology Child, Preschool chromosome 11p15.5 Chromosomes, Human, Pair 11 Cyclin-Dependent Kinase Inhibitor p57 - genetics Dandy-Walker malformation DNA Methylation Fatal Outcome Female Gene Deletion Genomic Imprinting Humans Infant Infant, Newborn Magnetic Resonance Imaging Male Malformations of the nervous system Medical genetics Medical sciences Mutation Neurology posterior fossa tumor predisposition
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