Further evidence that de novo missense and truncating variants in ZBTB18 cause intellectual disability with variable features. [electronic resource]
Producer: 20170602Description: 697-707 p. digitalISSN:- 1399-0004
- Abnormalities, Multiple -- genetics
- Adult
- Child
- Child, Preschool
- Chromosome Deletion
- Chromosomes, Human, Pair 1 -- genetics
- Exome
- Female
- Haploinsufficiency
- Humans
- Intellectual Disability -- genetics
- Magnetic Resonance Imaging
- Male
- Microcephaly -- genetics
- Mutation
- Mutation, Missense
- Pregnancy
- Repressor Proteins -- genetics
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Publication Type: Case Reports; Journal Article
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