Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy. [electronic resource]
Producer: 20171019Description: 2927-2933 p. digitalISSN:- 1552-4833
- Adolescent
- Alleles
- Amino Acid Sequence
- Animals
- Brain -- pathology
- Disease Models, Animal
- Epilepsy -- diagnosis
- Eukaryotic Initiation Factor-2 -- genetics
- Exome
- Facies
- Female
- Gene Knockdown Techniques
- Genes, X-Linked
- Genetic Association Studies
- Genotype
- Growth Disorders -- diagnosis
- High-Throughput Nucleotide Sequencing
- Humans
- Intellectual Disability -- diagnosis
- Magnetic Resonance Imaging
- Male
- Microcephaly -- diagnosis
- Mutation
- Pedigree
- Phenotype
- Syndrome
- Zebrafish
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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