Identification of an HMGB3 frameshift mutation in a family with an X-linked colobomatous microphthalmia syndrome using whole-genome and X-exome sequencing. [electronic resource]
Producer: 20150212Description: 1215-20 p. digitalISSN:- 2168-6173
- Child
- Chromosomes, Human, X -- genetics
- Coloboma -- genetics
- Exome -- genetics
- Frameshift Mutation -- genetics
- Genetic Diseases, X-Linked -- genetics
- Genome, Human -- genetics
- Growth Disorders -- genetics
- HMGB3 Protein -- genetics
- Humans
- Intellectual Disability -- genetics
- Male
- Microcephaly -- genetics
- Microphthalmos -- genetics
- Pedigree
- Polymerase Chain Reaction
- Sequence Analysis, DNA
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Publication Type: Journal Article
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