Cantú syndrome resulting from activating mutation in the KCNJ8 gene. [electronic resource]
Producer: 20150123Description: 809-13 p. digitalISSN:- 1098-1004
- Adolescent
- Cardiomegaly -- diagnosis
- DNA Mutational Analysis
- Facies
- Genetic Diseases, X-Linked -- diagnosis
- Humans
- Hypertrichosis -- diagnosis
- KATP Channels -- chemistry
- Male
- Membrane Potentials
- Models, Molecular
- Mutation
- Mutation, Missense
- Osteochondrodysplasias -- diagnosis
- Phenotype
- Protein Conformation
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
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