Neonatal detection of 5p13.2 duplication and delineation of the phenotype. [electronic resource]
Producer: 20120730Description: 877-81 p. digitalISSN:- 1552-4833
- Abnormalities, Multiple -- genetics
- Agenesis of Corpus Callosum -- genetics
- Arachnodactyly -- genetics
- Chromosome Duplication -- genetics
- Chromosomes, Human, Pair 5 -- genetics
- Comparative Genomic Hybridization
- Congenital Abnormalities -- genetics
- DNA Copy Number Variations
- Excitatory Amino Acid Transporter 1 -- genetics
- Genetic Testing -- methods
- Humans
- Infant, Newborn
- Karyotype
- Kidney -- abnormalities
- Kidney Diseases -- congenital
- Male
- Muscle Hypotonia -- genetics
- Phenotype
- Psychomotor Performance
- Retrognathia -- genetics
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Publication Type: Case Reports; Journal Article
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