Missense variant in CCDC22 causes X-linked recessive intellectual disability with features of Ritscher-Schinzel/3C syndrome. [electronic resource]
Producer: 20160106Description: 633-8 p. digitalISSN:- 1476-5438
- Abnormalities, Multiple -- diagnosis
- Adolescent
- Amino Acid Sequence
- Cell Line
- Child
- Comparative Genomic Hybridization
- Craniofacial Abnormalities -- diagnosis
- Dandy-Walker Syndrome -- diagnosis
- Exome
- Gene Expression
- Genes, X-Linked
- Genetic Association Studies
- Heart Septal Defects, Atrial -- diagnosis
- High-Throughput Nucleotide Sequencing
- Humans
- Intellectual Disability -- diagnosis
- Male
- Molecular Sequence Data
- Mutation, Missense
- Pedigree
- Phenotype
- Proteins -- chemistry
- Sequence Alignment
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Publication Type: Case Reports; Journal Article
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