Artículo

Next-Generation Sequencing as First-Line Diagnostic Test in Patients With Disorders of Sex Development?

Rey, Rodolfo AlbertoIcon
Fecha de publicación: 06/2022
Editorial: Oxford University Press
Revista: Journal of Clinical Endocrinology and Metabolism
ISSN: 0021-972X
e-ISSN: 1945-7197
Idioma: Inglés
Tipo de recurso: Artículo publicado
Clasificación temática:

Resumen

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)...
Palabras clave: DSD , FETAL SEX DIFFERENTIATION , HYPOSPADIAS , INTERSEX , NGS , SEX REVERSAL
 
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info:eu-repo/semantics/openAccess Excepto donde se diga explícitamente, este item se publica bajo la siguiente descripción: Creative Commons Attribution-NonCommercial-ShareAlike 2.5 Unported (CC BY-NC-SA 2.5)
Identificadores
URI: http://hdl.handle.net/11336/215029
DOI: http://dx.doi.org/10.1210/clinem/dgac133
URL: https://academic.oup.com/jcem/article/107/6/e2628/6543736
Colecciones
Articulos(CEDIE)
Articulos de CENTRO DE INVESTIGACIONES ENDOCRINOLOGICAS "DR. CESAR BERGADA"
Citación
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
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