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Three Cases of Carney-Stratakis Syndrome: A Genetically Heterogeneous Disease

Carney-Stratakis syndrome (CSS) is an autosomal dominant rare syndrome, with incomplete penetrance, characterized by the association of paragangliomas and/or pheochromocytomas and gastrointestinal stromal tumors (GISTs). CSS is caused by germline heterozygous loss-of-function pathogenic variants (PV...

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Detalles Bibliográficos
Autores principales:	Lobato, Eduardo C, Castro, Felipe F, Santana, Lucas S, Soares, Ibere C, Fagundes, Gustavo F C, Almeida, Madson Q
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Oxford University Press 2023
Materias:	Case Report
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10675988/ https://www.ncbi.nlm.nih.gov/pubmed/38021081 http://dx.doi.org/10.1210/jcemcr/luad139

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