Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
3
pubmed:dateCreated
1993-2-25
pubmed:abstractText
A 46,XY female patient with streak gonads and a large deletion of Yp is described. The deletion included the Y chromosomal genes SRY, ZFY, and RPS4Y. The patient did not display any Turner stigmata, such as webbing of the neck, cardiac or other abnormalities. The findings argue against an important role of RPS4Y in the prevention of Turner stigmata in males and are consistent with a role of SRY in testis differentiation in humans.
pubmed:grant
pubmed:language
eng
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Nov
pubmed:issn
0340-6717
pubmed:author
pubmed:issnType
Print
pubmed:volume
90
pubmed:geneSymbol
RPS44, SRY, ZFY
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
239-42
pubmed:dateRevised
2007-11-14
pubmed:meshHeading
pubmed-meshheading:1487236-Adult, pubmed-meshheading:1487236-Base Sequence, pubmed-meshheading:1487236-DNA, Single-Stranded, pubmed-meshheading:1487236-DNA-Binding Proteins, pubmed-meshheading:1487236-Female, pubmed-meshheading:1487236-Gene Deletion, pubmed-meshheading:1487236-Gonadal Dysgenesis, pubmed-meshheading:1487236-Humans, pubmed-meshheading:1487236-Karyotyping, pubmed-meshheading:1487236-Male, pubmed-meshheading:1487236-Molecular Sequence Data, pubmed-meshheading:1487236-Nuclear Proteins, pubmed-meshheading:1487236-Polymerase Chain Reaction, pubmed-meshheading:1487236-Sex Chromosome Aberrations, pubmed-meshheading:1487236-Sex Differentiation, pubmed-meshheading:1487236-Sex-Determining Region Y Protein, pubmed-meshheading:1487236-Transcription Factors, pubmed-meshheading:1487236-Turner Syndrome
pubmed:year
1992
pubmed:articleTitle
Absence of Turner stigmata in a 46,XYp-female.
pubmed:affiliation
Children's Hospital, Department of Pediatrics, Harvard Medical School, Boston, MA 02115.
pubmed:publicationType
Journal Article, Research Support, U.S. Gov't, P.H.S., Case Reports