De novo deleterious and heritable biallelic mutations in the DNA binding domain (DBD) of
the transcription factor deformed epidermal autoregulatory factor 1 (DEAF1) result in a …

Deformed epidermal autoregulatory factor‐1 (DEAF1), a transcription factor essential for
central nervous system and early embryonic development, has recently been implicated in a …

DEAF1 encodes deformed epidermal autoregulatory factor-1 homologue, a transcriptional
regulator which activates or represses a number of target genes involved in the early …

Purpose To investigate the effect of different DEAF1 variants on the phenotype of patients
with autosomal dominant and recessive inheritance patterns and on DEAF1 activity in vitro …

Recently, we identified in two individuals with intellectual disability (ID) different de novo
mutations in DEAF1, which encodes a transcription factor with an important role in …

DEAF1 encodes a transcriptional binding factor and is a regulator of serotonin receptor 1A.
Its protein has a significant expression in the neurons of different brain regions and is …

Neurodevelopmental disorders and sleep disturbances share genetic risk factors. DEAF1
genetic variants are associated with rare syndromes in which sleep disturbances are …

Intellectual disability: novel mutations in DEAF1 cause speech impairment and behavioral
problems Page 1 Clin Genet 2014: 86: 507–509 Printed in Singapore. All rights reserved © …

Background It has been reported that de novo heterozygous variants of DEAF1 can cause
DEAF1-associated neurodevelopmental disorder. The purpose of this article is to explore …

Background Various genetic defects cause autism associated with intellectual disability and
epilepsy. Here, we set out to identify the genetic defect in a consanguineous Omani family …