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May 1, 2024Molecular Genetics & Genomic MedicineOpen Access

Identification and functional analysis of a rare variant of gene DHX37 in a patient with 46,XY disorders of sex development

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Authors

WJWei JiangSun Yat-sen UniversityJYJing YuDalian Medical UniversityYMYu MTongji University

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Jiang et al. (2024) studied this question.

synapsesocial.com/papers/68e6c1c5b6db643587640dc2https://doi.org/10.1002/mgg3.2453
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Also Consider

Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

  1. 1Disorders of Sex Development in a Large Ukrainian Cohort: Clinical Diversity and Genetic Findings2022 · 63 citations
  2. 2Transcription, translation, and DNA repair: new insights from emerging noncanonical substrates of RNA helicases2020 · 12 citations
  3. 3A novel DEAH-box helicase 37 mutation associated with differences of sex development2023 · 9 citations
  4. 4Next generation sequencing (NGS) to improve the diagnosis and management of patients with disorders of sex development (DSD)2019 · 102 citations
  5. 5Rapid Molecular Genetic Diagnosis with Next-Generation Sequencing in 46,XY Disorders of Sex Development Cases: Efficiency and Cost Assessment2016 · 41 citations