Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations-Reference-Cited by-同舟云学术

Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations

Published:2014-03-11 Issue:7 Volume:133 Page:939-949
ISSN:0340-6717
Container-title:Human Genetics
language:en
Short-container-title:Hum Genet

Author:

Basel-Vanagaite Lina,Yilmaz Rüstem,Tang Sha,Reuter Miriam S.,Rahner Nils,Grange Dorothy K.,Mortenson Megan,Koty Patrick,Feenstra Heather,Farwell Gonzalez Kelly D.,Sticht Heinrich,Boddaert Nathalie,Désir Julie,Anyane-Yeboa Kwame,Zweier Christiane,Reis André,Kubisch Christian,Jewett Tamison,Zeng Wenqi,Borck Guntram

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://link.springer.com/content/pdf/10.1007/s00439-014-1436-2.pdf

Reference21 articles.

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4. Clayton-Smith J, O’Sullivan J, Daly S, Bhaskar S, Day R, Anderson B, Voss AK, Thomas T, Biesecker LG, Smith P, Fryer A, Chandler KE, Kerr B, Tassabehji M, Lynch SA, Krajewska-Walasek M, McKee S, Smith J, Sweeney E, Mansour S, Mohammed S, Donnai D, Black G (2011) 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 89(5):675–681. doi: 10.1016/j.ajhg.2011.10.008

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