Novel biallelic loss-of-function KCNV2 variants in cone dystrophy with supernormal rod responses. [electronic resource]
Producer: 20190726Description: 229-239 p. digitalISSN:- 1573-2622
- Adult
- Electroretinography
- Female
- Follow-Up Studies
- Humans
- Ophthalmoscopy
- Pedigree
- Potassium Channels, Voltage-Gated -- genetics
- Retinal Rod Photoreceptor Cells -- physiology
- Retinitis Pigmentosa -- diagnosis
- Retrospective Studies
- Tomography, Optical Coherence
- Visual Fields -- physiology
- Exome Sequencing
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Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
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