Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.

Détails

ID Serval
serval:BIB_2359EF5E190A
Type
Article: article d'un périodique ou d'un magazine.
Sous-type
Etude de cas (case report): rapporte une observation et la commente brièvement.
Collection
Publications
Titre
Isolated 46,XY gonadal dysgenesis in two sisters caused by a Xp21.2 interstitial duplication containing the DAX1 gene.
Périodique
Journal of Clinical Endocrinology and Metabolism
Auteur(s)
Barbaro M., Oscarson M., Schoumans J., Staaf J., Ivarsson S.A., Wedell A.
ISSN
0021-972X (Print)
ISSN-L
0021-972X
Statut éditorial
Publié
Date de publication
2007
Volume
92
Numéro
8
Pages
3305-3313
Langue
anglais
Notes
Publication types: Case Reports ; Journal Article ; Research Support, Non-U.S. Gov'tPublication Status: ppublish
Mots-clé
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
Oui
Création de la notice
17/09/2011 10:12
Dernière modification de la notice
20/08/2019 14:01
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