Congenital Arthrogryposis: An Extension of the 15q11.2 BP1-BP2 Microdeletion Syndrome?

The proximal 15q11–q13 region contains 5 breakpoints (BP1–BP5). The BP1-BP2 region spans approximately 500 kb and contains four evolutionarily conserved genes. The genes in this region are known to play a role in central nervous system development and/or function. Microdeletions within the 15q11.2 B...

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Detalles Bibliográficos
Autores principales: Usrey, K. M., Williams, C. A., Dasouki, M., Fairbrother, L. C., Butler, M. G.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi Publishing Corporation 2014
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978403/
https://www.ncbi.nlm.nih.gov/pubmed/24778887
http://dx.doi.org/10.1155/2014/127258

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3978403/
https://www.ncbi.nlm.nih.gov/pubmed/24778887
http://dx.doi.org/10.1155/2014/127258

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