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Paternal uniparental disomy 11p15.5 in the pancreatic nodule of an infant with Costello syndrome: Shared mechanism for hyperinsulinemic hypoglycemia in neonates with Costello and Beckwith-Wiedemann syndrome and somatic loss of heterozygosity in Costello syndrome driving clonal expansion.
Gripp, Karen W; Robbins, Katherine M; Sheffield, Brandon S; Lee, Anna F; Patel, Millan S; Yip, Stephen; Doyle, Daniel; Stabley, Deborah; Sol-Church, Katia.
Affiliation
  • Gripp KW; Division of Medical Genetics, A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
  • Robbins KM; Biomedical Research, A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
  • Sheffield BS; Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Lee AF; Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Patel MS; Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Yip S; Faculty of Medicine, University of British Columbia, Vancouver, BC, Canada.
  • Doyle D; Division of Endocrinology, A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
  • Stabley D; Biomedical Research, A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
  • Sol-Church K; Biomedical Research, A. I. du Pont Hospital for Children/Nemours, Wilmington, Delaware.
Am J Med Genet A ; 170(3): 559-64, 2016 Mar.
Article in En | MEDLINE | ID: mdl-26572961
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Proto-Oncogene Proteins p21(ras) / Genomic Imprinting / Uniparental Disomy / Congenital Hyperinsulinism / Costello Syndrome / Hypoglycemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Country of publication: United States
Fulltext
Add to My VHL
Print
XML
PubMed Links
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Beckwith-Wiedemann Syndrome / Proto-Oncogene Proteins p21(ras) / Genomic Imprinting / Uniparental Disomy / Congenital Hyperinsulinism / Costello Syndrome / Hypoglycemia Type of study: Diagnostic_studies / Prognostic_studies Limits: Humans / Infant / Male Language: En Journal: Am J Med Genet A Journal subject: GENETICA MEDICA Year: 2016 Document type: Article Country of publication: United States