Long-term follow-up of a family with dominant X-linked retinitis pigmentosa
โ Scribed by Wu, D M; Khanna, H; Atmaca-Sonmez, P; Sieving, P A; Branham, K; Othman, M; Swaroop, A; Daiger, S P; Heckenlively, J R
- Book ID
- 109852384
- Publisher
- Nature Publishing Group
- Year
- 2009
- Tongue
- English
- Weight
- 886 KB
- Volume
- 24
- Category
- Article
- ISSN
- 0950-222X
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๐ SIMILAR VOLUMES
The results of linkage analysis in a family with X-linked retinitis pigmentosa (XLRP) are presented. Probe M27B (DXS255), localised to Xpll.22, was only loosely linked to XLRP, whereas pHOC3 (OTC), in the more distal Xp21.1 region, was tightly linked. In this family, the conditional probability of a
## Abstract Most Xโlinked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In Xโlinked retinitis pigmentosa (XLRP), however, both recessive and semiโdominant inheritance patterns have been reported. We identified an Israeli family with semiโdominant XLRP due