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Case report: A heterozygous mutation in ZNF462 leads to growth hormone deficiency
Weiss–Kruszka syndrome (WSKA) is a rare disease most often caused by mutations in the ZNF462 gene. To screen for hereditary diseases, exons from the patient’s genome were sequenced. Genomic PCR experiments followed by Sanger sequencing were used to confirm the mutated genomic regions in the patient...
| Autores principales: | , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9770794/ https://www.ncbi.nlm.nih.gov/pubmed/36568367 http://dx.doi.org/10.3389/fgene.2022.1015021 |