The ARID1B phenotype: What we have learned so far
doi: 10.1002/ajmg.c.31414
pmid: 25169814
The ARID1B phenotype: What we have learned so far
Evidence is now accumulating from a number of sequencing studies that ARID1B not only appears to be one of the most frequently mutated intellectual disability (ID) genes, but that the range of phenotypes caused by ARID1B mutations seems to be extremely wide. Thus, it is one of the most interesting ID genes identified so far in the exome sequencing era. In this article, we review the literature surrounding ARID1B and attempt to delineate the ARID1B phenotype. The vast majority of published ARID1B patients have been ascertained through studies of Coffin–Siris syndrome (CSS), which leads to bias when documenting the frequencies of phenotypic features. Additional observations of those individuals ascertained through exome sequencing studies helps in delineation of the broader clinical phenotype. We are currently establishing an ARID1B consortium, aimed at collecting ARID1B patients identified through genome‐wide sequencing strategies. We hope that this endeavor will eventually lead to a more comprehensive view of the ARID1B phenotype. © 2014 Wiley Periodicals, Inc.
- Leiden University Netherlands
Micrognathism, Medizin, DNA-Binding Proteins, Face, Intellectual Disability, Mutation, Humans, Abnormalities, Multiple, Hand Deformities, Congenital, Genetic Association Studies, Neck, Transcription Factors
Micrognathism, Medizin, DNA-Binding Proteins, Face, Intellectual Disability, Mutation, Humans, Abnormalities, Multiple, Hand Deformities, Congenital, Genetic Association Studies, Neck, Transcription Factors
6 Research products, page 1 of 1
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
- 2017IsRelatedTo
citations This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).88 popularity This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.Top 10% influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).Top 10% impulse This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.Top 10%
