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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
2011-1-21
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pubmed:abstractText |
The potential involvement of SRY in abnormal gonadal development in 45,X/46,X,der(Y) patients was proposed following the identification of SRY mutations in a few patients with Turner syndrome (TS). However, its exact etiological role in gonadal dysgenesis in patients with Y chromosome mosaicisms has not yet been clarified.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:issn |
1663-2826
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pubmed:author |
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pubmed:copyrightInfo |
2010 S. Karger AG, Basel.
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pubmed:issnType |
Electronic
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pubmed:volume |
75
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
26-31
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pubmed:dateRevised |
2011-11-17
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pubmed:meshHeading |
pubmed-meshheading:20699606-Adolescent,
pubmed-meshheading:20699606-Adult,
pubmed-meshheading:20699606-Alleles,
pubmed-meshheading:20699606-Child,
pubmed-meshheading:20699606-Child, Preschool,
pubmed-meshheading:20699606-Chromosome Aberrations,
pubmed-meshheading:20699606-Chromosomes, Human, X,
pubmed-meshheading:20699606-Chromosomes, Human, Y,
pubmed-meshheading:20699606-Cohort Studies,
pubmed-meshheading:20699606-Female,
pubmed-meshheading:20699606-Gonadal Dysgenesis, Mixed,
pubmed-meshheading:20699606-Humans,
pubmed-meshheading:20699606-Infant,
pubmed-meshheading:20699606-Infant, Newborn,
pubmed-meshheading:20699606-Karyotyping,
pubmed-meshheading:20699606-Mosaicism,
pubmed-meshheading:20699606-Mutation,
pubmed-meshheading:20699606-Polymorphism, Single Nucleotide,
pubmed-meshheading:20699606-Sex-Determining Region Y Protein,
pubmed-meshheading:20699606-Turner Syndrome
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pubmed:year |
2011
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pubmed:articleTitle |
The role of SRY mutations in the etiology of gonadal dysgenesis in patients with 45,X/46,XY disorder of sex development and variants.
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pubmed:affiliation |
Unit of Developmental Endocrinology and Laboratory of Hormone and Molecular Genetics LIM/42, Hospital das Clinicas of the University of São Paulo Medical School, São Paulo, Brazil.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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