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The First Korean Patient with Potocki-Shaffer Syndrome: A Rare Cause of Multiple Exostoses
Potocki-Shaffer syndrome (PSS, OMIM #601224) is a rare contiguous gene deletion syndrome caused by haploinsufficiency of genes located on the 11p11.2p12. Affected individuals have a number of characteristic features including multiple exostoses, biparietal foramina, abnormalities of genitourinary sy...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Korean Academy of Medical Sciences
2015
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4310950/ https://www.ncbi.nlm.nih.gov/pubmed/25653495 http://dx.doi.org/10.3346/jkms.2015.30.2.214 |