Heterozygous TP63 pathogenic variants in isolated primary ovarian insufficiency.

Vanderschelden, Rachel K; Rodriguez-Escriba, Marta; Chan, Serena H; Berman, Andrea J; Rajkovic, Aleksandar; Yatsenko, Svetlana A

Vanderschelden, Rachel K; Rodriguez-Escriba, Marta; Chan, Serena H; Berman, Andrea J; Rajkovic, Aleksandar; Yatsenko, Svetlana A.

Vanderschelden RK; Department of Pathology, University of Pittsburgh, Pittsburgh, PA, USA.
Rodriguez-Escriba M; Department of Pathology, University of California San Francisco, San Francisco, CA, USA.
Chan SH; Division of Pediatric and Adolescent Gynecology, UPMC Children's Hospital of Pittsburgh, University of Pittsburgh, Pittsburgh, PA, USA.
Berman AJ; Department of Obstetrics, Gynecology and Reproductive Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Rajkovic A; Department of Biological Sciences, University of Pittsburgh, Pittsburgh, PA, USA.
Yatsenko SA; Department of Pathology, University of California San Francisco, San Francisco, CA, USA. Aleks.Rajkovic@ucsf.edu.

J Assist Reprod Genet ; 40(9): 2211-2218, 2023 Sep.

Article en En | MEDLINE | ID: mdl-37453019

Asunto(s)

Insuficiencia Ovárica Primaria; Femenino; Humanos; Variaciones en el Número de Copia de ADN/genética; Insuficiencia Ovárica Primaria/genética; Insuficiencia Ovárica Primaria/metabolismo; Factores de Transcripción/genética; Proteínas Supresoras de Tumor/genética

Palabras clave

DNA repair; Isolated POI; Pleiotropy; Primary ovarian insufficiency; TP63

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Insuficiencia Ovárica Primaria Tipo de estudio: Prognostic_studies Límite: Female / Humans Idioma: En Año: 2023 Tipo del documento: Article

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