Reciprocal Deletion and Duplication of 17p11.2-11.2: Korean Patients with Smith-Magenis Syndrome and Potocki-Lupski Syndrome

Deletion and duplication of the -3.7-Mb region in 17p11.2 result in two reciprocal syndrome, Smith-Magenis syndrome and Potocki-Lupski syndrome. Smith-Magenis syndrome is a well-known developmental disorder. Potocki-Lupski syndrome has recently been recognized as a microduplication syndrome that is...

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Detalles Bibliográficos
Autores principales: Lee, Cha Gon, Park, Sang-Jin, Yun, Jun-No, Yim, Shin-Young, Sohn, Young Bae
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The Korean Academy of Medical Sciences 2012
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524443/
https://www.ncbi.nlm.nih.gov/pubmed/23255863
http://dx.doi.org/10.3346/jkms.2012.27.12.1586

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3524443/
https://www.ncbi.nlm.nih.gov/pubmed/23255863
http://dx.doi.org/10.3346/jkms.2012.27.12.1586

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