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Predicate | Object |
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rdf:type | |
lifeskim:mentions | |
pubmed:issue |
3
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pubmed:dateCreated |
1983-6-23
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pubmed:abstractText |
The syndrome of torticollis, keloids, cryptorchidism and renal dysplasia was described by Goeminne (1968) in a large family, and listed as X-linked incomplete dominant by McKusick (1978; No. 31430). We mapped the locus on the long arm of the X chromosome at band q28 and distal to the G6PD locus. This was achieved by the chance discovery in the literature that two females, each with a balanced X/autosome translocation involving Xq28, had partial manifestation of the syndrome as was the case with the females in the larger family of Goeminne (1968).
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pubmed:language |
eng
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pubmed:journal | |
pubmed:citationSubset |
IM
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pubmed:chemical | |
pubmed:status |
MEDLINE
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pubmed:issn |
0340-6717
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pubmed:author | |
pubmed:issnType |
Print
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pubmed:volume |
62
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
280-1
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pubmed:dateRevised |
2004-11-17
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pubmed:meshHeading |
pubmed-meshheading:6132873-Abnormalities, Multiple,
pubmed-meshheading:6132873-Chromosome Mapping,
pubmed-meshheading:6132873-Cryptorchidism,
pubmed-meshheading:6132873-Female,
pubmed-meshheading:6132873-Glucosephosphate Dehydrogenase,
pubmed-meshheading:6132873-Humans,
pubmed-meshheading:6132873-Keloid,
pubmed-meshheading:6132873-Kidney,
pubmed-meshheading:6132873-Sex Chromosomes,
pubmed-meshheading:6132873-Syndrome,
pubmed-meshheading:6132873-Torticollis,
pubmed-meshheading:6132873-Translocation, Genetic,
pubmed-meshheading:6132873-X Chromosome
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pubmed:year |
1982
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pubmed:articleTitle |
Gene mapping and serendipity. The locus for torticollis, keloids, cryptorchidism and renal dysplasia (31430, Mckusick) is at Xq28, distal to the G6PD locus.
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pubmed:publicationType |
Journal Article
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