Identification of pathogenic YY1AP1 splice variants in siblings with Grange syndrome by whole exome sequencing. [electronic resource]
Producer: 20200206Description: 295-299 p. digitalISSN:- 1552-4833
- Adolescent
- Adult
- Arterial Occlusive Diseases -- genetics
- Bone and Bones -- abnormalities
- Brachydactyly -- genetics
- Cell Cycle Proteins -- genetics
- Child
- Female
- Genetic Predisposition to Disease
- Heart Defects, Congenital -- genetics
- Humans
- Hypertension -- genetics
- Male
- Middle Aged
- Pedigree
- Protein Isoforms -- genetics
- Syndactyly -- genetics
- Transcription Factors -- genetics
- Exome Sequencing
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Publication Type: Case Reports; Journal Article
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