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Beckwith-Wiedemann syndrome due to 11p15 microduplication

MedGen UID:
1826126
Concept ID:
C5681581
Disease or Syndrome
Monarch Initiative: MONDO:0019875
Orphanet: ORPHA96076

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBeckwith-Wiedemann syndrome due to 11p15 microduplication

Recent clinical studies

Etiology

Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C
Ann Genet 1988;31(4):216-20. PMID: 2905880

Prognosis

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F
Clin Epigenetics 2016;8:69. Epub 2016 Jun 16 doi: 10.1186/s13148-016-0236-z. PMID: 27313795Free PMC Article

Clinical prediction guides

Boonen SE, Freschi A, Christensen R, Valente FM, Lildballe DL, Perone L, Palumbo O, Carella M, Uldbjerg N, Sparago A, Riccio A, Cerrato F
Clin Epigenetics 2016;8:69. Epub 2016 Jun 16 doi: 10.1186/s13148-016-0236-z. PMID: 27313795Free PMC Article
Henry I, Jeanpierre M, Barichard F, Serre JL, Mallet J, Turleau C, de Grouchy J, Junien C
Ann Genet 1988;31(4):216-20. PMID: 2905880

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