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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Detalhes bibliográficos
Publicado no:J Korean Med Sci
Main Authors: Park, Jisun, Ha, Dong Jun, Seo, Go Hun, Maeng, Seri, Kang, Sung Mo, Kim, Sujin, Lee, Ji Eun
Formato: Artigo
Idioma:Inglês
Publicado em: The Korean Academy of Medical Sciences 2021
Assuntos:
Case Report
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8111047/
https://ncbi.nlm.nih.gov/pubmed/33975400
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3346/jkms.2021.36.e133
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