Three Siblings With Woodhouse-Sakati Syndrome: A Case Report of A New Saudi Family

Woodhouse-Sakati syndrome (WSS) is a rare autosomal recessive multi-system genetic disease caused by loss of function mutations in the DCAF17 gene on chromosome 2q31.1. The disease is characterized by gradual neurologic degeneration and polyendocrinopathy, particularly noteworthy for hypogonadism, b...

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Detalles Bibliográficos
Autores principales: Alhuzaim, Omar N, Ahmad, Mohammad M, Sherbeeni, Suphia M, Almotawa, Fahad, Ali, Abdulrahman S, Alhejaily, Abdul-Mohsen G
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Cureus 2022
Materias:
Endocrinology/Diabetes/Metabolism
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812427/
https://www.ncbi.nlm.nih.gov/pubmed/36620807
http://dx.doi.org/10.7759/cureus.32225

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9812427/
https://www.ncbi.nlm.nih.gov/pubmed/36620807
http://dx.doi.org/10.7759/cureus.32225

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