Empty Sella Syndrome Associated with Growth Hormone Deficiency: the First Case Report of Weiss-Kruszka Syndrome

Weiss-Kruszka syndrome (WSKA), caused by heterozygous loss-of-function variants in ZNF462 gene, is a recently described and extremely rare genetic disorder. The main phenotypes include characteristic craniofacial features, ptosis, dysgenesis of the corpus callosum, and neurodevelopmental impairment....

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Detalles Bibliográficos
Autores principales: Park, Jisun, Ha, Dong Jun, Seo, Go Hun, Maeng, Seri, Kang, Sung Mo, Kim, Sujin, Lee, Ji Eun
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2021
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8111047/
https://www.ncbi.nlm.nih.gov/pubmed/33975400
http://dx.doi.org/10.3346/jkms.2021.36.e133

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8111047/
https://www.ncbi.nlm.nih.gov/pubmed/33975400
http://dx.doi.org/10.3346/jkms.2021.36.e133

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