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Weiss-Kruszka Syndrome With Unreported Manifestations; Empty Sella Syndrome Associated With Growth Hormone Deficiency

Objective: Weiss-Kruszka syndrome (WSKA; MIM#618,619) is a rare, autosomal dominant disorder associated with zinc finger protein 462 (ZNF462) gene variation or deletion of 9q31.2 involving ZNF462 and various congenital anomalies. Its specific clinical findings are abnormal facial shape, prominent fo...

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Detalles Bibliográficos
Autores principales: Park, Jisun, Kim, Su Jin, Seo, GoHun, Lee, Ji-Eun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8089905/
http://dx.doi.org/10.1210/jendso/bvab048.1262