Genotype/phenotype correlation in affected individuals of a family with a deletion of the entire coding sequence of the connexin 32 gene
β Scribed by P. J. Ainsworth; C. F. Bolton; B. C. Murphy; J. A. Stuart; A. F. Hahn
- Publisher
- Springer
- Year
- 1998
- Tongue
- English
- Weight
- 62 KB
- Volume
- 103
- Category
- Article
- ISSN
- 0340-6717
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## Communicated by Mark H. Paalman Mutations at the Norrie disease gene locus, NDP, manifest in a broad range of defects. These range from a relatively mild, late-onset, exudative vitreoretinopathy to congenital blindness and sensorineural deafness combined, in some cases, with mental retardation.