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Phenotypic progression in X-linked retinitis pigmentosa secondary to a novel mutation in the RPGR gene

✍ Scribed by Al-Maskari, A; O'grady, A; Pal, B; McKibbin, M


Book ID
109852122
Publisher
Nature Publishing Group
Year
2009
Tongue
English
Weight
101 KB
Volume
23
Category
Article
ISSN
0950-222X

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## Abstract Most X‐linked diseases show a recessive pattern of inheritance in which female carriers are unaffected. In X‐linked retinitis pigmentosa (XLRP), however, both recessive and semi‐dominant inheritance patterns have been reported. We identified an Israeli family with semi‐dominant XLRP due