Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis-Reference-Cited by-同舟云学术

Mutations in Histone Acetylase Modifier BRPF1 Cause an Autosomal-Dominant Form of Intellectual Disability with Associated Ptosis

Published:2017-01 Issue:1 Volume:100 Page:105-116
ISSN:0002-9297
Container-title:The American Journal of Human Genetics
language:en
Short-container-title:The American Journal of Human Genetics

Author:

Mattioli Francesca,Schaefer Elise,Magee Alex,Mark Paul,Mancini Grazia M.,Dieterich Klaus,Von Allmen Gretchen,Alders Marielle,Coutton Charles,van Slegtenhorst Marjon,Vieville Gaëlle,Engelen Mark,Cobben Jan Maarten,Juusola Jane,Pujol Aurora,Mandel Jean-Louis,Piton Amélie

Publisher

Elsevier BV

Subject

Genetics(clinical),Genetics

Reference29 articles.

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3. Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study;Rauch;Lancet,2012

4. De novo loss-of-function mutations in SETD5, encoding a methyltransferase in a 3p25 microdeletion syndrome critical region, cause intellectual disability;Grozeva;Am. J. Hum. Genet.,2014

5. Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome;Kuechler;Eur. J. Hum. Genet.,2015

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