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dc.contributor.author
Rey, Rodolfo Alberto  
dc.date.available
2023-10-12T14:45:24Z  
dc.date.issued
2022-06  
dc.identifier.citation
Rey, Rodolfo Alberto; Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?; Oxford University Press; Journal of Clinical Endocrinology and Metabolism; 107; 6; 6-2022; E2628-E2629  
dc.identifier.issn
0021-972X  
dc.identifier.uri
http://hdl.handle.net/11336/215029  
dc.description.abstract
Disorders of sex development (DSD) are a group of highly heterogeneous disorders presenting mainly at birth or at pubertal age, characterized by discordance between chromosomal, gonadal, and/or genital sex. Newborns usually present with ambiguous genitalia while adolescents present with atypical or downright absent pubertal development (1)...  
dc.format
application/pdf  
dc.language.iso
eng  
dc.publisher
Oxford University Press  
dc.rights
info:eu-repo/semantics/openAccess  
dc.rights.uri
https://creativecommons.org/licenses/by-nc-sa/2.5/ar/  
dc.subject
DSD  
dc.subject
FETAL SEX DIFFERENTIATION  
dc.subject
HYPOSPADIAS  
dc.subject
INTERSEX  
dc.subject
NGS  
dc.subject
SEX REVERSAL  
dc.subject.classification
Endocrinología y Metabolismo  
dc.subject.classification
Medicina Clínica  
dc.subject.classification
CIENCIAS MÉDICAS Y DE LA SALUD  
dc.title
Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?  
dc.type
info:eu-repo/semantics/article  
dc.type
info:ar-repo/semantics/artículo  
dc.type
info:eu-repo/semantics/publishedVersion  
dc.date.updated
2023-07-07T23:05:11Z  
dc.identifier.eissn
1945-7197  
dc.journal.volume
107  
dc.journal.number
6  
dc.journal.pagination
E2628-E2629  
dc.journal.pais
Reino Unido  
dc.journal.ciudad
Oxford  
dc.description.fil
Fil: Rey, Rodolfo Alberto. Consejo Nacional de Investigaciones Científicas y Técnicas. Oficina de Coordinación Administrativa Parque Centenario. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Gobierno de la Ciudad de Buenos Aires. Centro de Investigaciones Endocrinológicas "Dr. César Bergada". Fundación de Endocrinología Infantil. Centro de Investigaciones Endocrinológicas "Dr. César Bergada"; Argentina  
dc.journal.title
Journal of Clinical Endocrinology and Metabolism  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/doi/http://dx.doi.org/10.1210/clinem/dgac133  
dc.relation.alternativeid
info:eu-repo/semantics/altIdentifier/url/https://academic.oup.com/jcem/article/107/6/e2628/6543736  

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