The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B. [electronic resource]
Producer: 20180621Description: 1440-1443 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Adult
- Agenesis of Corpus Callosum -- diagnosis
- Child
- DNA-Binding Proteins -- genetics
- Facies
- Female
- Genetic Association Studies
- Humans
- Hyperkeratosis, Epidermolytic -- diagnosis
- Hypertrichosis -- diagnosis
- Intellectual Disability -- diagnosis
- Mutation
- Phenotype
- Transcription Factors -- genetics
- Exome Sequencing
- Young Adult
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Publication Type: Case Reports; Letter
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