A novel mosaic 1q32.1 microduplication identified through Chromosome Microarray Analysis: narrowing the smallest critical region including KDM5B gene found associated with neurodevelopmetal disorders. [electronic resource]
Producer: 20200120Description: 103558 p. digitalISSN:- 1878-0849
- Adaptor Proteins, Signal Transducing -- genetics
- Child
- Chromosome Duplication
- Chromosomes, Human, Pair 1 -- genetics
- Craniofacial Abnormalities -- genetics
- Guanine Nucleotide Exchange Factors -- genetics
- Humans
- Intellectual Disability -- genetics
- Jumonji Domain-Containing Histone Demethylases -- genetics
- Male
- Neurodevelopmental Disorders -- genetics
- Nuclear Proteins -- genetics
- Repressor Proteins -- genetics
- Synaptotagmin II -- genetics
- Twins
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Publication Type: Case Reports; Journal Article
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