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...

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Detalles Bibliográficos
Autores principales: Sohn, Young Bae, Yim, Shin-Young, Cho, Eun-Hae, Kim, Ok-Hwa
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2015
Materias:
Case Report
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

Internet

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

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