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Abstract 33: Clinical exome sequencing in XY DSD

Background: XY DSD presents as a diagnostic dilemma, making genetic tests essential for diagnosis. Aims and Objectives: Determine diagnostic yield of clinical exome sequencing in XY DSD patients &Ascertain concordance between clinical diagnosis and genetic diagnosis in case of XY DSD. Results: 3...

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Detalles Bibliográficos
Autores principales: Das, Debaditya, Chowdhury, Subhankar
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer - Medknow 2022
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9067718/
http://dx.doi.org/10.4103/2230-8210.342147