Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1983-6-23
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).
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
62
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
280-1
pubmed:dateRevised
2004-11-17
pubmed:meshHeading
pubmed:year
1982
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.
pubmed:publicationType
Journal Article