Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Details
Serval ID
serval:BIB_2359EF5E190A
Type
Article: article from journal or magazin.
Publication sub-type
Case report (case report): feedback on an observation with a short commentary.
Collection
Publications
Institution
Title
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Journal
Journal of Clinical Endocrinology and Metabolism
ISSN
0021-972X (Print)
ISSN-L
0021-972X
Publication state
Published
Issued date
2007
Volume
92
Number
8
Pages
3305-3313
Language
english
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Keywords
Adolescent, Adult, Chromosomes, Human, Pair 21/genetics, Computational Biology, DAX-1 Orphan Nuclear Receptor, DNA/analysis, DNA/genetics, DNA-Binding Proteins/genetics, Female, Gene Amplification, Gene Dosage, Gene Duplication, Gonadal Dysgenesis, 46,XY/genetics, Humans, In Situ Hybridization, Fluorescence, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Phenotype, Receptors, Retinoic Acid/genetics, Repressor Proteins/genetics, Reverse Transcriptase Polymerase Chain Reaction
Pubmed
Web of science
Open Access
Yes
Create date
17/09/2011 9:12
Last modification date
20/08/2019 13:01
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