A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes-Reference-Cited by-同舟云学术

A patient showing features of both SBBYSS and GPS supports the concept of a KAT6B-related disease spectrum, with mutations in mid-exon 18 possibly leading to combined phenotypes

Published:2015-10 Issue:10 Volume:58 Page:550-555
ISSN:1769-7212
Container-title:European Journal of Medical Genetics
language:en
Short-container-title:European Journal of Medical Genetics

Author:

Vlckova Marketa,Simandlova Martina,Zimmermann Pavel,Stranecky Viktor,Hartmannova Hana,Hodanova Katerina,Havlovicova Marketa,Hancarova Miroslava,Kmoch Stanislav,Sedlacek Zdenek

Funder

BIOCEV – Biotechnology and Biomedicine Centre of the Academy of Sciences

Charles University

Ministry of Health of the Czech Republic

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics,General Medicine

Reference11 articles.

1. Mutations in KAT6B, encoding a histone acetyltransferase, cause genitopatellar syndrome;Campeau;Am. J. Hum. Genet.,2012

2. Campeau P.M., Lee B.H.. KAT6B-Related Disorders. GeneReviews [Internet]. http://www.ncbi.nlm.nih.gov/books/NBK114806/ Last Revision: January 10, 2013; (accessed 26.08.15).

4. Whole-exome-sequencing identifies mutations in histone acetyltransferase gene KAT6B in individuals with the Say-Barber-Biesecker variant of Ohdo syndrome;Clayton-Smith;Am. J. Hum. Genet.,2011

5. Further delineation of the KAT6B molecular and phenotypic spectrum;Gannon;Eur. J. Hum. Genet.,2015

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