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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....
Autores principales: | Park, Jisun, Ha, Dong Jun, Seo, Go Hun, Maeng, Seri, Kang, Sung Mo, Kim, Sujin, Lee, Ji Eun |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
The Korean Academy of Medical Sciences
2021
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Materias: | |
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 |
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