Genetics, Differences of Sex Development
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Müllerian Agenesis in a patient with Rubinstein-Taybi Syndrome: A Case Series and Review of the Overlapping Developmental Biologic Pathways. Journal of Pediatric and Adolescent Gynecology. 2024; 37:67-71.
35. A Patient with Rubinstein-Taybi Syndrome Found to Have Müllerian Agenesis: A Previously Unreported Presentation. Journal of Pediatric and Adolescent Gynecology. 2023; 36:188.
Characterization of a rare mosaic unbalanced translocation of t(3;12) in a patient with neurodevelopmental disorders. Molecular Cytogenetics. 2022; 15:10.
XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. Pediatrics. 2020; 146.
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