De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy-Reference-Cited by-同舟云学术

De Novo KAT5 Variants Cause a Syndrome with Recognizable Facial Dysmorphisms, Cerebellar Atrophy, Sleep Disturbance, and Epilepsy

Published:2020-09 Issue:3 Volume:107 Page:564-574
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Humbert Jonathan,Salian Smrithi,Makrythanasis Periklis,Lemire Gabrielle,Rousseau Justine,Ehresmann Sophie,Garcia Thomas,Alasiri Rami,Bottani Armand,Hanquinet Sylviane,Beaver Erin,Heeley Jennifer,Smith Ann C.M.,Berger Seth I.,Antonarakis Stylianos E.,Yang Xiang-Jiao,Côté Jacques,Campeau Philippe M.^ORCID

Funder

Fonds de Recherche du Québec - Santé

Canada Research Chairs

Canadian Institutes of Health Research

Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics

Reference74 articles.

1. De novo nonsense mutations in KAT6A, a lysine acetyl-transferase gene, cause a syndrome including microcephaly and global developmental delay;Arboleda;Am. J. Hum. Genet.,2015

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