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Linkage analysis in a large Spanish family with X-linked retinitis pigmentosa: phenotype—genotype correlation

✍ Scribed by C. Capeans; M. J. Blanco; M. V. Lareu; F. Barros; A. Piñeiro; M. Sanchez-Salorio; A. Carracedo

Book ID: 110887795
Publisher: John Wiley and Sons
Year: 2008
Tongue: English
Weight: 562 KB
Volume: 54
Category: Article
ISSN: 0009-9163
DOI: 10.1111/j.1399-0004.1998.tb03689.x

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We report on a large 5-generation family with "nonspecific" X-linked mental retardation. Nine living affected males have an I& between 50 and 70 but have normal stature, facial appearance, and testicular volumes and no other abnormalities. Two obligate carrier females had borderline intellectual abi