Gonadal mosaicism of large terminal de novo duplication and deletion in siblings with variable intellectual disability phenotypes. [electronic resource]
Producer: 20200622Description: e00954 p. digitalISSN:- 2324-9269
- Child
- Child, Preschool
- Chromosomes, Human, Pair 15
- Chromosomes, Human, Pair 7
- Dipeptidyl-Peptidases and Tripeptidyl-Peptidases
- Female
- Gene Deletion
- Gene Duplication
- Genetic Variation
- Gonads -- metabolism
- Humans
- Intellectual Disability -- diagnosis
- Male
- Membrane Proteins -- genetics
- Mosaicism
- Nerve Tissue Proteins -- genetics
- Phenotype
- Potassium Channels
- Receptor, IGF Type 1 -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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