Cantú syndrome is caused by mutations in ABCC9. [electronic resource]
Producer: 20120823Description: 1094-101 p. digitalISSN:- 1537-6605
- ATP-Binding Cassette Transporters -- genetics
- Adolescent
- Adult
- Base Sequence
- Cardiomegaly -- genetics
- Child
- Cohort Studies
- Facies
- Female
- Genes, Dominant
- Genetic Diseases, X-Linked -- genetics
- Humans
- Hypertrichosis -- genetics
- Infant
- Male
- Molecular Sequence Data
- Mutation
- Osteochondrodysplasias -- genetics
- Phenotype
- Potassium Channels -- genetics
- Potassium Channels, Inwardly Rectifying -- genetics
- Receptors, Drug -- genetics
- Sequence Analysis, DNA
- Sulfonylurea Receptors
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Publication Type: Journal Article; Research Support, Non-U.S. Gov't
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