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Article

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

7 Mar 2022

Abstract excerpt

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). The underlying pathogenesis may rely on gonadal differentiation or on sex...

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Share to Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
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PMID: 35254448
DOI: 10.1210/clinem/dgac133

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