Clinical utility gene card for: Beckwith–Wiedemann Syndrome

Author:

Eggermann Thomas,Algar Elizabeth,Lapunzina Pablo,Mackay Deborah,Maher Eamonn R,Mannens Marcel,Netchine Irène,Prawitt Dirk,Riccio Andrea,Temple I Karen,Weksberg Rosanna

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Reference21 articles.

1. Shuman C, Beckwith JB, Smith AC, Weksberg R : Beckwith-Wiedemann Syndrome; In: 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).

2. 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.

3. 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.

4. Algar E, Brickell S, Deeble G, Amor D, Smith P : Analysis of CDKN1C in Beckwith Wiedemann syndrome. Hum Mutat 2000; 15: 497–508.

5. 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.

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