Services and Specialties

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. Roth, LP; Yu, LX; Johnson, J; Qu'd, D; McCracken, K; Simpson, BN; Pennesi, CM. 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. Roth, LP; Yu, LX; Johnson, J; Simpson, BN; Pennesi, C. 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. Hu, X; Baker, EK; Johnson, J; Balow, S; Pena, LD M; Conlin, LK; Guan, Q; Smolarek, TA. Molecular Cytogenetics. 2022; 15:10.

XY Gonadal Dysgenesis in a Phenotypic Female Identified by Direct-to-Consumer Genetic Testing. Kim, A; Abell, K; Johnson, J; Cizek, S; Breech, L; Ernst, MM; Hopkin, RJ; Kennedy, K; Stanek, J; Strine, AC; et al. Pediatrics. 2020; 146:e20193302.

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