Annals of Pediatric Endocrinology & Metabolism

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A Korean boy with 46,XX testicular disorder of sex development caused by SOX9 duplication

Gyung Min Lee, Jung Min Ko, Choong Ho Shin, Sei Won Yang

Ann Pediatr Endocrinol Metab. 2014;19(2):108-112. Published online June 30, 2014
DOI: https://doi.org/10.6065/apem.2014.19.2.108

A Korean boy with 46,XX testicular disorder of sex development caused bySOX9duplication

Gyung Min Lee, Jung Min Ko, Choong Ho Shin, Sei Won Yang

Annals of Pediatric Endocrinology & Metabolism. 2014;19(2):108

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A duplication in a patient with 46,XX ovo-testicular disorder of sex development refines the SOX9 testis-specific regulatory region to 24 kb

T. Ohnesorg, J.A. van den Bergen, D. Belluoccio, N. Shankara-Narayana, A.-M. Kean, A. Vasilaras, L. Ewans, K.L. Ayers, A.H. Sinclair

Clinical Genetics. 2017;92(3):347-349

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Duplication of SOX9 associated with 46,XX ovotesticular disorder of sex development

Berenice López-Hernández, Juan Pablo Méndez, Ramón Mauricio Coral-Vázquez, Jesús Benítez-Granados, Juan Carlos Zenteno, Vanessa Villegas-Ruiz, Raúl Calzada-León, Daniela Soderlund, Patricia Canto

Reproductive BioMedicine Online. 2018;37(1):107-112

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De novo 12;17 translocation upstream ofSOX9resulting in 46,XX testicular disorder of sex development

Osama Refai, Andrew Friedman, Lori Terry, Tamison Jewett, Alexander Pearlman, Mary Ann Perle, Harry Ostrer

American Journal of Medical Genetics Part A. 2010;152A(2):422-426

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Polymorphisms in the SOX9 region and testicular disorder of sex development (38,XX; SRY -negative) in pigs

Monika Stachowiak, Izabela Szczerbal, Joanna Nowacka-Woszuk, Hanna Jackowiak, Pawel Sledzinski, Pawel Iskrzak, Stanislaw Dzimira, Marek Switonski

Livestock Science. 2017;203:48-53

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Testicular architecture of men with 46,XX testicular Disorders of Sex Development

Mirkka Hiort, Julia Rohayem, Regine Knaf, Sandra Laurentino, Agnethe Berglund, Claus H. Gravholt, Jörg Gromoll, Joachim Wistuba

Sexual Development. 2023;

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PMON33 Non-Syndromic SRY Negative 46 XX Testicular Disorder of Sex Development (DSD); A rare cause of Infertility

Aiman Riaz, Nabonita Barua, Chelsea Gordner

Journal of the Endocrine Society. 2022;6(Supplement_1):A460-A461

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PMON33 Non-Syndromic SRY Negative 46 XX Testicular Disorder of Sex Development (DSD): A Rare Cause of Infertility

Aiman Riaz, Nabonita Barua, Chelsea Gordner

Journal of the Endocrine Society. 2022;6(Supplement_1):A460-A460

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Gene Expression Profile During Testicular Development in Patients With SRY-negative 46,XX Testicular Disorder of Sex Development

Kentaro Mizuno, Yoshiyuki Kojima, Hideyuki Kamisawa, Yoshinobu Moritoki, Hidenori Nishio, Kenjiro Kohri, Yutaro Hayashi

Urology. 2013;82(6):1453.e1-1453.e7

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Copy number variation in the region harboring SOX9 gene in dogs with testicular/ovotesticular disorder of sex development (78,XX; SRY-negative)

Malgorzata Marcinkowska-Swojak, Izabela Szczerbal, Hubert Pausch, Joanna Nowacka-Woszuk, Krzysztof Flisikowski, Stanislaw Dzimira, Wojciech Nizanski, Rita Payan-Carreira, Ruedi Fries, Piotr Kozlowski, Marek Switonski

Scientific Reports. 2015;5(1):

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