THU211 Novel SIN3A Loss-Of-Function Variant As Potentially Pathogenic For Hypogonadotropic Hypogonadism In Witteveen-Kolk Syndrome

Disclosure: L.M. Correa Brito: None. A.C. Keselman: None. N.M. Sanguineti: None. P.A. Scaglia: None. M. Esnaola Azcoiti: None. F. Villegas: None. M. Maier: None. I. Bergada: None. M.G. Ropelato: None. R.A. Rey: None. Witteveen-Kolk Syndrome (WITKOS, MIM #613406) is an autosomal dominant disorder cha...

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Detalles Bibliográficos
Autores principales: Correa Brito, Lourdes Magdalena, Keselman, Ana Claudia, Sanguineti, Nora Maria, Scaglia, Paula Alejandra, Azcoiti, María Esnaola, Villegas, Florencia, Maier, Marianela, Bergada, Ignacio, Ropelato, Maria Gabriela, Rey, Rodolfo A
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2023
Materias:
Pediatric Endocrinology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555780/
http://dx.doi.org/10.1210/jendso/bvad114.1462

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10555780/
http://dx.doi.org/10.1210/jendso/bvad114.1462

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