1996
DOI: 10.1007/s001050050522
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Nagel-Patella-Syndrom

Abstract: The nail-patella syndrome is an autosomal dominant trait characterized by abnormalities of the nails, patella and radial head, iliac crest and, in some cases, nephropathy. The genetic defect is localized on chromosome 9q34.1. The clinical features in affected individuals vary greatly. The nephropathy may progress to end-stage renal failure, leading to decreased life expectancy. We report a woman with bilateral hypoplastic thumbnails, who also had aplasia of both patellae and subluxation of the left elbow joint… Show more

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Cited by 3 publications
(1 citation statement)
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“…2) led to a b/a ratio of around 1.5:1, compared to a 1:1.5 ratio when the corresponding dibenzoate 97 is used under the same conditions. 44 Some of the protecting groups that were introduced to separate the diastereomers arising from the Reformatsky reaction proved also useful to separate the nucleoside anomers by crystallisation. 25 For example, the 4-phenylbenzoate protected difluororibose derivative 44 (Scheme 25).…”
Section: Mesylate Leaving Groupmentioning
confidence: 99%
“…2) led to a b/a ratio of around 1.5:1, compared to a 1:1.5 ratio when the corresponding dibenzoate 97 is used under the same conditions. 44 Some of the protecting groups that were introduced to separate the diastereomers arising from the Reformatsky reaction proved also useful to separate the nucleoside anomers by crystallisation. 25 For example, the 4-phenylbenzoate protected difluororibose derivative 44 (Scheme 25).…”
Section: Mesylate Leaving Groupmentioning
confidence: 99%