Further delineation of the KAT6B molecular and phenotypic spectrum-Reference-Cited by-同舟云学术

Further delineation of the KAT6B molecular and phenotypic spectrum

Published:2014-11-26 Issue:9 Volume:23 Page:1165-1170
ISSN:1018-4813
Container-title:European Journal of Human Genetics
language:en
Short-container-title:Eur J Hum Genet

Author:

Gannon Tamsin, ,Perveen Rahat,Schlecht Hélene,Ramsden Simon,Anderson Beverley,Kerr Bronwyn,Day Ruth,Banka Siddharth,Suri Mohnish,Berland Siren,Gabbett Michael,Ma Alan,Lyonnet Stan,Cormier-Daire Valerie,Yilmaz Rüstem,Borck Guntram,Wieczorek Dagmar,Anderlid Britt-Marie,Smithson Sarah,Vogt Julie,Moore-Barton Heather,Simsek-Kiper Pelin Ozlem,Maystadt Isabelle,Destrée Anne,Bucher Jessica,Angle Brad,Mohammed Shehla,Wakeling Emma,Price Sue,Singer Amihood,Sznajer Yves,Toutain Annick,Haye Damien,Newbury-Ecob Ruth,Fradin Melanie,McGaughran Julie,Tuysuz Beyhan,Tein Mark,Bouman Katelijne,Dabir Tabib,Van den Ende Jenneke,Luk Ho Ming,Pilz Daniela T,Eason Jacqueline,Davies Sally,Reardon Willie,Garavelli Livia,Zuffardi Orsetta,Devriendt Koen,Armstrong Ruth,Johnson Diana,Doco-Fenzy Martine,Bijlsma Emilia,Unger Sheila,Veenstra-Knol Hermine E,Kohlhase Jürgen,Lo Ivan FM,Smith Janine,Clayton-Smith Jill

Publisher

Springer Science and Business Media LLC

Subject

Genetics (clinical),Genetics

Link

http://www.nature.com/articles/ejhg2014248.pdf

Reference17 articles.

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2. Day R, Beckett B, Donnai D et al: A clinical and genetic study of the Say/Barber/Biesecker/Young-Simpson type of Ohdo syndrome. Clin Genet 2008; 74: 434–444.

3. Young ID, Simpson K : Unknown syndrome: abnormal facies, congenital heart defects, hypothyroidism, and severe retardation. J Med Genet 1987; 24: 715–716.

4. Clayton-Smith J, O'Sullivan J, Daly S et al: Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome. Am J Hum Genet 2011; 89: 675–681.

5. Szakszon K, Salpietro C, Kakar N et al: De novo mutations of the gene encoding the histone acetyltransferase KAT6B in two patients with Say-Barber/Biesecker/Young-Simpson syndrome. Am J Med Genet 2013; 161A: 884–888.

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