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. 2014 Mar;22(3).
doi: 10.1038/ejhg.2013.132. Epub 2013 Jul 3.

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Thomas Eggermann  1 , Elizabeth Algar  2 , Pablo Lapunzina  3 , Deborah Mackay  4 , Eamonn R Maher  5 , Marcel Mannens  6 , Irène Netchine  7 , Dirk Prawitt  8 , Andrea Riccio  9 , I Karen Temple  10 , Rosanna Weksberg  11
Affiliations

Clinical utility gene card for: Beckwith-Wiedemann Syndrome

Thomas Eggermann et al. Eur J Hum Genet. 2014 Mar.
No abstract available

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References

    1. Shuman C, Beckwith JB, Smith AC, Weksberg R.Beckwith-Wiedemann SyndromeIn: Pagon RA, Bird TD, Dolan CR, Stephens K, Adam MP, (eds): GeneReviews Seattle (WA): University of Washington, Seattle; (03 March 1993–2000, updated 2010 Dec 14). - PubMed
    1. Cooper WN, Luharia A, Evans GA, et al. Molecular subtypes and phenotypic expression of Beckwith-Wiedemann syndrome. Eur J Hum Genet. 2005;13:1025–1032. - PubMed
    1. Lam WW, Hatada I, Ohishi S, et al. Analysis of germline CDKN1C (p57KIP2) mutations in familial and sporadic Beckwith-Wiedemann syndrome (BWS) provides a novel genotype-phenotype correlation. J Med Genet. 1999;36:518–523. - PMC - PubMed
    1. Algar E, Brickell S, Deeble G, Amor D, Smith P. Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum Mutat. 2000;15:497–508. - PubMed
    1. Beygo J, Citro V, Sparago A, et al. The molecular function and clinical phenotype of partial deletions of the IGF2/H19 imprinting control region depends on the spatial arrangement of the remaining CTCF-binding sites. Hum Mol Genet. 2013;22:544–557. - PMC - PubMed

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