RecessiveDEAF1mutation associates with autism, intellectual disability, basal ganglia dysfunction and epilepsy
Author:
Publisher
BMJ
Subject
Genetics (clinical),Genetics
Reference12 articles.
1. Mutations affecting the SAND domain of DEAF1 cause intellectual disability with severe speech impairment and behavioral problems;Vulto-van Silfhout;Am J Hum Genet,2014
2. Characterization of a nuclear deformed epidermal autoregulatory factor-1 (DEAF-1)-related (NUDR) transcriptional regulator protein;Huggenvik;Mol Endocrinol,1998
3. Nuclear DEAF-1-related (NUDR) protein contains a novel DNA binding domain and represses transcription of the heterogeneous nuclear ribonucleoprotein A2/B1 promoter;Michelson;J Biol Chem,1999
4. Defective neural tube closure and anteroposterior patterning in mice lacking the LIM protein LMO4 or its interacting partner deaf-1;Hahm;Mol Cell Biol,2004
5. POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability;von Renesse;J Med Genet,2014
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4. Genetic and Protein Network Underlying the Convergence of Rett-Syndrome-like (RTT-L) Phenotype in Neurodevelopmental Disorders;Cells;2023-05-21
5. Expansion and mechanistic insights into de novo DEAF1 variants in DEAF1-associated neurodevelopmental disorders;Human Molecular Genetics;2022-08-18
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