Article

Intragenic Duplication of DMRT1 in a SRY-Negative Boy with 46,XX Disorder of Sex Development

2021-12-14

Abstract excerpt

<h4>Background: </h4> 46,XX disorders of sex development are rare. Approximately, 90% of XX males are SRY-positive, while testicular development in the absence of SRY takes place in a minority. <h4>Methods:</h4> A boy with 46,XX karyotype (SRY-negative; absence of SOX9 duplications) was investigated by targeted Next Generation Sequencing (NGS), Multiplex ligation-dependent probe amplification (MLPA), and Comparati...

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Literature Corpus work: c8caf0f0-0447-5e47-9a1d-d14819a947e8
DOI: 10.20944/preprints202112.0219.v1

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