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SAT-297 Mutation in SRY Gene Presenting as Syndromic 46XY Disorder of Sexual Differentiation (DSD)

Introduction Mutations in the SRY gene presenting as sex reversal is rare and not associated with problems in other organ systems. We report a case of a 46 XY adolescent with history of cleft lip and palate, phenotypically female, diagnosed with a mutation in the SRY gene causing sex reversal. Clini...

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Detalles Bibliográficos
Autores principales:	Adhikari, Amita, Taha, Doris, Senguttuvan, Rajan, Lakshmanan, Yegappan
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Endocrine Society 2019
Materias:	Pediatric Endocrinology
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6552224/ http://dx.doi.org/10.1210/js.2019-SAT-297

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